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Degenerative Bones, Joints, and Spine Care (A – Z)
Degenerative Bones, Joints, and Spine Care (A - Z)

Syndactyly Type 7

Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Syndactyly Type 7

Syndactyly type 7 is a rare birth condition where some fingers (and sometimes toes) are joined together, often in a complex way (skin + soft tissue + sometimes bone). Many people also have changes in ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Camptodactyly–Tall Stature–Scoliosis–Hearing Loss Syndrome (CATSHL)

Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Camptodactyly–Tall Stature–Scoliosis–Hearing Loss Syndrome (CATSHL)

Camptodactyly–Tall Stature–Scoliosis–Hearing Loss syndrome is a very rare genetic condition. People with this syndrome usually have four main features: (1) camptodactyly (some fingers are bent and ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Arthropathy-Camptodactyly Syndrome

Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Arthropathy-Camptodactyly Syndrome

Arthropathy-camptodactyly (CACP) syndrome is a rare inherited condition where children are born with or soon develop bent fingers (camptodactyly), large painless joint swellings (non-inflammatory ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis (CACP) Syndrome

Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis (CACP) Syndrome

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis (CACP) syndrome is a rare genetic condition that begins in childhood and combines four main problems: bent fingers that won’t fully straighten ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia Syndrome

Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia Syndrome

Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia describes a rare, congenital (present at birth) combination of problems: a progressive bend (flexion) at the middle joint of the ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia

Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia

Camptodactyly means a finger (usually the little finger) is stuck in a bent position at the middle (PIP) joint from birth or early childhood. In “camptodactyly with fibrous tissue hyperplasia and ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Camptodactyly Syndrome, Guadalajara Type 3 (CSG3)

Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Camptodactyly Syndrome, Guadalajara Type 3 (CSG3)

Camptodactyly syndrome, Guadalajara type 3 is a very rare genetic disorder in which the fingers are bent and cannot fully straighten (camptodactyly), together with a distinct facial look (often a ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Camptodactyly Syndrome, Guadalajara Type 2

Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Camptodactyly Syndrome, Guadalajara Type 2

Camptodactyly syndrome, Guadalajara type 2 is a very rare condition present at birth. Children are small for age, both before and after birth. They often have bent fingers (camptodactyly) in several ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Camptodactyly Syndrome, Guadalajara Type 1 (GCS-1)

Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Camptodactyly Syndrome, Guadalajara Type 1 (GCS-1)

Camptodactyly syndrome, Guadalajara type 1 (often shortened to “Guadalajara type 1”) is a very rare, inherited condition in which a child is born with fingers that stay bent (camptodactyly) together ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Camptodactyly

Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Camptodactyly

Camptodactyly means a finger that stays bent at the middle joint (the proximal interphalangeal, or PIP joint) and cannot fully straighten on its own. It is usually painless, often involves the little ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Camptobrachydactyly

Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Camptobrachydactyly

Camptobrachydactyly is a very rare condition in which people have short fingers or toes (brachydactyly) together with fixed bending (flexion contractures) of finger joints (camptodactyly), most often ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Familial Doughnut Lesions of the Skull

Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Familial Doughnut Lesions of the Skull

Familial doughnut lesions of the skull are round, ring-like spots in the skull bones that look like a “doughnut” on X-rays. Many affected people also have weak bones that break easily. Doctors now ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Doughnut Lesion of the Calvaria and Bone Fragility Syndrome

Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Doughnut Lesion of the Calvaria and Bone Fragility Syndrome

Doughnut lesion of the calvaria and bone fragility syndrome is a rare, inherited bone disease. It causes ring-shaped, sclerotic spots in the skull bones that look like doughnuts on X-ray. It also ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Calvarial Doughnut Lesions–Bone Fragility Syndrome

Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Calvarial Doughnut Lesions–Bone Fragility Syndrome

Calvarial doughnut lesions–bone fragility syndrome is a rare, inherited bone disease. Bones break easily from childhood. The skull shows small round “doughnut-like” hard areas on X-rays. Many people ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Synostoses of the Tarsal (Foot), Carpal (Wrist), and Digital (Fingers/Toes) Bones

Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Synostoses of the Tarsal (Foot), Carpal (Wrist), and Digital (Fingers/Toes) Bones

Synostosis means two bones that should be separate have become joined by solid bone. This makes the joint between them disappear, so the bones act like one. Synostosis can be present at birth ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Calcaneonavicular Coalition

Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Calcaneonavicular Coalition

A calcaneonavicular coalition is an abnormal bridge between two foot bones: the calcaneus (heel bone) and the navicular (a small bone in the midfoot). In most people these bones are separate and can ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Osteopoikilosis (with or without Melorheostosis)

Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Osteopoikilosis (with or without Melorheostosis)

Osteopoikilosis is a rare, mostly harmless bone condition where many tiny “bone islands” grow inside different bones. Doctors see these as small, round or oval white spots on X-rays, usually near ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Bruck Syndrome 2 (BRKS2)

Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Bruck Syndrome 2 (BRKS2)

Bruck syndrome 2 is a very rare genetic condition that combines two big problems: (1) bones that break easily (like osteogenesis imperfecta) and (2) tight joints present from birth (congenital ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome

Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome

Osteogenesis imperfecta-congenital joint contractures syndrome combines the bone fragility of osteogenesis imperfecta with congenital (from birth) joint contractures. Children are prone to fractures, ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Osteogenesis Imperfecta with Congenital Joint Contractures

Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Osteogenesis Imperfecta with Congenital Joint Contractures

Osteogenesis imperfecta with congenital joint contractures is a very rare, inherited bone and connective-tissue disorder in which a baby is born with stiff joints that do not move fully ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Brachyrachia (Short-Spine Dysplasia)

Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Brachyrachia (Short-Spine Dysplasia)

Brachyrachia means an abnormally short spine. In this condition, the bones of the spine (the vertebrae) are short and flattened, so the whole trunk looks short compared with the arms and legs. ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Brachyolmia, Maroteaux Type 2 (BCYM2)

Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Brachyolmia, Maroteaux Type 2 (BCYM2)

Brachyolmia, Maroteaux type—also called brachyolmia type 2 (BCYM2)—is a rare, inherited bone disorder. It mainly affects the spine. Children typically look short in the trunk (upper body) while the ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Brachyrachia

Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Brachyrachia

Brachyrachia means a short spine. Doctors also call it short spine dysplasia. It is a rare genetic bone condition where the bones of the spine (the vertebrae) are shaped in a way that makes the spine ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Brachyolmia

Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Brachyolmia

Brachyolmia is a rare group of genetic bone conditions where the spine’s vertebral bodies are flatter than normal (a finding called platyspondyly). People usually have a short trunk, may have mild ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Brachydactyly Type A1 (BDA1)

Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Brachydactyly Type A1 (BDA1)

Brachydactyly type A1 (BDA1) is a rare, inherited difference in hand and foot development in which the middle bones (middle phalanges) of most or all fingers and toes are short or sometimes absent. ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Brachydactylous Dwarfism, Mseleni Type

Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Brachydactylous Dwarfism, Mseleni Type

Brachydactylous dwarfism, Mseleni type, is a very rare bone and joint disorder. “Brachydactylous” means the fingers and toes are short. “Dwarfism” means the person is shorter than expected for age ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Bone Fragility-Contractures-Arterial Rupture-Deafness (BCARD) Syndrome

Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Bone Fragility-Contractures-Arterial Rupture-Deafness (BCARD) Syndrome

Bone Fragility-Contractures-Arterial Rupture-Deafness (BCARD) Syndrome is a very rare, inherited connective-tissue disease. It happens when both copies of the PLOD3 gene stop working properly. PLOD3 ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Bone Abnormalities, Cataract, Arterial Rupture, and Deafness

Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Bone Abnormalities, Cataract, Arterial Rupture, and Deafness

Bone abnormalities is a problem with how bones are built, shaped, or strengthened. The problem can be present from birth (genetic) or can happen later. Bones may be too thin (fragile), too soft, too ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Bone Fragility with Contractures, Arterial Rupture, and Deafness (BCARD)

Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Bone Fragility with Contractures, Arterial Rupture, and Deafness (BCARD)

Bone fragility with contractures, arterial rupture, and deafness (BCARD) is a rare, inherited connective-tissue disorder. The body’s collagen—the protein that gives strength to bone, blood vessels, ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Bone Dysplasia, Lethal Holmgren Type

Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Bone Dysplasia, Lethal Holmgren Type

Bone dysplasia, lethal Holmgren type is a very rare, inherited disorder that affects how a baby’s bones grow before birth. The main problems are very short arms and legs (especially the upper arms ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Perinatal Lethal Bent BoneDdysplasia

Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Perinatal Lethal Bent BoneDdysplasia

Perinatal lethal bent bone dysplasia is a very rare genetic bone disorder. It affects a baby before birth. The bones do not form in a normal way. The long bones (like the thigh bone) look bent on ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Bent Bone Dysplasia Syndrome 1 (BBDS1)

Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Bent Bone Dysplasia Syndrome 1 (BBDS1)

Bent bone dysplasia syndrome 1 (BBDS1) is a very rare, usually lethal skeletal (bone) disorder that begins before birth. It is caused by disease-causing changes (variants) in a gene called FGFR2. ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Balo Concentric Sclerosis (BCS)

Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Balo Concentric Sclerosis (BCS)

Baló concentric sclerosis (BCS) is a very rare demyelinating disease. “Demyelinating” means the immune system strips the protective myelin coating from nerve fibers in the brain. BCS sits on the ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Axial Spondylometaphyseal Dysplasia (SMDAX)

Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Axial Spondylometaphyseal Dysplasia (SMDAX)

Axial spondylometaphyseal dysplasia is a very rare genetic bone growth disorder. “Axial” means the center line of the body (spine, ribs, pelvis, and nearby bones). “Spondylo-” refers to the spine. ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Axial Osteomalacia

Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Axial Osteomalacia

Axial osteomalacia is an exceptionally rare bone disorder where the axial skeleton (spine, ribs, pelvis) develops a dense, coarse, sponge-like trabecular pattern on X-ray, but the limb bones look ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Spondylodysplastic Dysplasia Caused by Mutations in PAM16

Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Spondylodysplastic Dysplasia Caused by Mutations in PAM16

Spondylodysplastic dysplasia due to PAM16 is a very rare genetic bone disorder. It affects the spine (“spondylo-”), the ends of long bones near the joints (“metaphyseal”), and overall bone growth ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Spondyloepimetaphyseal Dysplasia, Irapa Type

Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Spondyloepimetaphyseal Dysplasia, Irapa Type

Spondyloepimetaphyseal dysplasia, Irapa type is a very rare inherited bone-growth disorder. It mainly affects the spine (spondylo-), the ends of bones (epiphyses), and the shaft ends near the growth ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Spondylothoracic Dysostosis (STD)

Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Spondylothoracic Dysostosis (STD)

Spondylothoracic dysostosis (STD) is a rare condition present from birth. It mainly affects the bones of the spine and the ribs. The vertebrae do not form and separate in the usual way, so many of ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Jarcho-Levin Syndrome

Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Jarcho-Levin Syndrome

Jarcho-Levin syndrome is a genetic (inherited) condition that starts in early embryo life. The “body clock” that times the making of spinal segments does not work properly. This causes vertebrae to ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Osteoclast-Poor Osteopetrosis

Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Osteoclast-Poor Osteopetrosis

Osteoclast-poor osteopetrosis is a very rare, inherited bone disease. In this condition, the body cannot make enough working osteoclasts. Osteoclasts are the bone cells that remove old bone. When ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Gallbladder Cancer – Causes, Symptoms & Treatment Options

Dr Muhammad Zakria
Gallbladder Cancer – Causes, Symptoms & Treatment Options

Introduction Gallbladder cancer is a rare but serious disease that develops when cancerous (malignant) cells form in the tissues of the gallbladder a small organ located just beneath the liver. ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Liver Cancer: Symptoms, Causes, Treatment, and Prognosis

Dr Muhammad Zakria
Liver Cancer: Symptoms, Causes, Treatment, and Prognosis

  Introduction Liver cancer is one of the most challenging cancers worldwide, known for its aggressive nature and often late diagnosis. The liver, a vital organ responsible for ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Hypophosphatemic Rickets

Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Hypophosphatemic Rickets

Hypophosphatemic rickets is a bone disease where the body loses too much phosphate in the urine. Phosphate is a mineral your bones need to harden and stay strong. In the most common type (XLH), a ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Autosomal Recessive Hypophosphatemic Bone Disease

Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Autosomal Recessive Hypophosphatemic Bone Disease

Autosomal recessive hypophosphatemic bone disease is a group of rare genetic conditions where both copies of a key gene are altered (one from each parent). Because of these changes, the kidneys lose ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Geroderma Osteodysplasticum (GO)

Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Geroderma Osteodysplasticum (GO)

Geroderma osteodysplasticum (GO) is a rare, inherited condition that makes the skin loose and wrinkled and the bones fragile. Children are usually born looking small or normal, but over time they ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Cutis Laxa with Bone Dystrophy

Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Cutis Laxa with Bone Dystrophy

Cutis laxa with bone dystrophy is a rare connective-tissue disorder in which the skin is loose, saggy, and less elastic because elastic fibers and related matrix proteins are abnormal. It can be ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Spondylocostal Dysostosis (SCDO)

Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Spondylocostal Dysostosis (SCDO)

Spondylocostal dysostosis (SCDO) is a rare birth condition where the bones of the spine (vertebrae) and ribs do not form and separate normally before birth. The spine may have “segmentation” errors ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Osteosclerosis Fragilis

Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Osteosclerosis Fragilis

Osteosclerosis fragilis is an old, Latinized name that physicians used for a condition in which bones look very dense (sclerotic) but are paradoxically fragile. Today, this entity is best known as ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Spondylolysis

Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Spondylolysis

Spondylolysis means there is a small break (a “stress fracture”) or a thinning/defect in a narrow bridge of bone at the back of a vertebra called the pars interarticularis. This pars is the short ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Aneurysm Osteoarthritis Syndrome (AOS)

Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Aneurysm Osteoarthritis Syndrome (AOS)

Aneurysm-osteoarthritis syndrome is a rare, inherited connective-tissue disorder. It mainly causes bulging (aneurysms), stretching (tortuosity), or tearing (dissection) of arteries anywhere in the ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Spinal and Bulbar Muscular Atrophy (SBMA)

Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Spinal and Bulbar Muscular Atrophy (SBMA)

Spinal and bulbar muscular atrophy (SBMA) is a rare, slowly progressive nerve-and-muscle disease that mainly affects adult males. It happens because of a change (an expansion of “CAG” repeats) in the ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Dysostosis

Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Dysostosis

Dysostosis is a group of birth conditions that affect how certain bones form and join. The problem starts very early in pregnancy when the baby’s skeleton is being built. In dysostosis, one or a few ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Autosomal Dominant Late Onset Spinal Muscular Atrophy (AD-LO-SMA)

Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Autosomal Dominant Late Onset Spinal Muscular Atrophy (AD-LO-SMA)

Autosomal dominant late-onset spinal muscular atrophy (AD-LO-SMA) is a group of rare genetic disorders in which the lower motor neurons in the spinal cord slowly degenerate in adults. “Autosomal ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Acro-Renal Mandibular Syndrome (ARMS)

Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Acro-Renal Mandibular Syndrome (ARMS)

Acro-renal-mandibular syndrome is a very rare condition that is present from birth. It affects three main body areas at the same time: the hands and feet (“acro”), the kidneys and urinary system ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Sesamoiditis

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
Sesamoiditis

Sesamoiditis is an overuse injury characterized by inflammation of the two tiny sesamoid bones embedded under the big toe joint (the first metatarsophalangeal joint). These sesame‑seed–shaped bones ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Psoriatic Arthritis–Related Dactylitis

Dr. Azarel Abinader
Psoriatic Arthritis–Related Dactylitis

Psoriatic arthritis–related dactylitis, often called “sausage digit,” is a hallmark feature of psoriatic arthritis (PsA) characterized by diffuse swelling of an entire finger or toe. This swelling ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Infectious (Septic) Dactylitis

Dr. Azarel Abinader
Infectious (Septic) Dactylitis

Infectious (Septic) Dactylitis is a specific form of dactylitis in which an invading pathogen—most often bacteria—infects the bone (osteomyelitis) and surrounding soft-tissue sheath (tenosynovitis) ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Reactive Dactylitis

Dr. Azarel Abinader
Reactive Dactylitis

Reactive dactylitis, often called “sausage digit,” refers to a diffuse swelling of an entire finger or toe that arises as part of reactive arthritis. In reactive arthritis, the body’s immune system ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Tenosynovitis-Predominant Dactylitis

Dr. Azarel Abinader
Tenosynovitis-Predominant Dactylitis

Tenosynovitis-predominant dactylitis is a form of sausage digit in which inflammation of the tendon sheaths (tenosynovium) drives the characteristic swelling of an entire finger or toe. Unlike ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Psoriatic Dactylitis

Dr. Azarel Abinader
Psoriatic Dactylitis

Psoriatic dactylitis, often called “sausage digit,” is the swelling of an entire finger or toe due to inflammation of joints, tendon sheaths, and soft tissues. It is a hallmark feature of psoriatic ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Sickle Cell Dactylitis

Dr. Azarel Abinader
Sickle Cell Dactylitis

Sickle cell dactylitis, often called “hand–foot syndrome,” is one of the earliest painful complications of sickle cell disease. It happens when sickled red blood cells block small blood vessels in ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Dactylitis

Dr. Azarel Abinader
Dactylitis

Dactylitis—often called “sausage digit”—is a medical term describing uniform swelling of an entire finger or toe. This swelling gives the digit a sausage-like appearance and usually involves redness, ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Costochondral Enthesitis

Dr. Azarel Abinader
Costochondral Enthesitis

Costochondral enthesitis is an inflammatory condition that affects the point where the ribs meet the costal cartilage of the chest wall. This junction—known as the enthesis—is where the firm, fibrous ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Medial Epicondyle Enthesitis

Dr. Azarel Abinader
Medial Epicondyle Enthesitis

Medial epicondyle enthesitis is a condition in which the spot where the forearm flexor and pronator tendons attach to the inner (medial) bony bump of the elbow becomes inflamed. Tendons are strong, ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Lateral Epicondyle Enthesitis

Dr. Azarel Abinader
Lateral Epicondyle Enthesitis

Enthesitis refers to inflammation at the enthesis, the specific site where a tendon or ligament attaches to bone. In this condition, the normal collagen fibers at the attachment become irritated and ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Plantar Fascia Enthesitis

Dr. Azarel Abinader
Plantar Fascia Enthesitis

Plantar fascia enthesitis is the inflammation of the enthesis—the specialized zone where the plantar fascia (the thick band of tissue supporting the foot’s arch) attaches to the heel bone ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Insertional Achilles Enthesitis

Dr. Azarel Abinader
Insertional Achilles Enthesitis

Insertional Achilles enthesitis is a painful inflammation occurring where the Achilles tendon attaches to the back of the heel (the posterosuperior aspect of the calcaneus). In this condition, ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Achilles Tendon Enthesopathy

Dr. Azarel Abinader
Achilles Tendon Enthesopathy

Achilles tendon enthesopathy is a condition in which the tendon that connects the calf muscles (gastrocnemius and soleus) to the heel bone (calcaneus) becomes irritated, inflamed, or degenerative at ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Achilles Enthesitis

Dr. Azarel Abinader
Achilles Enthesitis

Achilles enthesitis, also known as Achilles tendon enthesopathy or insertional Achilles enthesitis, is inflammation at the point where the Achilles tendon attaches to the calcaneus (heel bone). This ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Fibrocartilaginous Enthesitis

Dr. Azarel Abinader
Fibrocartilaginous Enthesitis

Fibrocartilaginous enthesitis is inflammation at the site where a tendon, ligament, or joint capsule attaches to bone—specifically at an enthesis that normally contains fibrocartilage. In healthy ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Fibrous Enthesitis

Dr. Azarel Abinader
Fibrous Enthesitis

Fibrous enthesitis is a form of inflammation that affects the fibrous attachments where tendons, ligaments, or joint capsules connect to bone—known as entheses. Unlike fibrocartilaginous entheses ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Crystalline Enthesitis

Dr. Azarel Abinader
Crystalline Enthesitis

Crystalline enthesitis refers to inflammation at the enthesis—the site where tendons or ligaments attach to bone—caused by the local deposition of microscopic crystals. In a healthy enthesis, ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Traumatic Enthesitis

Dr. Azarel Abinader
Traumatic Enthesitis

Traumatic enthesitis is the painful inflammation that occurs at the exact spot where a tendon, ligament, or joint capsule attaches to bone—known as the enthesis—when it has been damaged by a sudden ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Septic Enthesitis

Dr. Azarel Abinader
Septic Enthesitis

Septic enthesitis is an infection of the enthesis, the site where a tendon or ligament attaches to bone. In this condition, bacteria (or, less commonly, fungi or other microbes) invade the enthesis ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Calcific Enthesitis

Dr. Azarel Abinader
Calcific Enthesitis

Calcific enthesitis is a condition characterized by calcium deposits forming at the sites where tendons, ligaments, or joint capsules attach to bone—known as entheses. These deposits can lead to ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Mechanical (Overuse) Enthesitis

Dr. Azarel Abinader
Mechanical (Overuse) Enthesitis

Mechanical (overuse) enthesitis is an inflammatory condition affecting the entheses—the sites where tendons, ligaments, or joint capsules attach to bone—resulting from repetitive stress or ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Inflammatory Enthesitis

Dr. Azarel Abinader
Inflammatory Enthesitis

Inflammatory enthesitis is a condition where the body’s defense system mistakenly attacks the enthesis—the spot where a tendon, ligament, or joint capsule fastens to bone. Unlike simple tendon pain, ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Calcific Enthesitis

Dr. Azarel Abinader
Calcific Enthesitis

Enthesis (plural: entheses) refers to the anatomic junction where connective tissues—such as tendons, ligaments, joint capsules, or bursae—attach to bone. Calcific enthesitis is characterized by ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Chronic Enthesitis

Dr. Azarel Abinader
Chronic Enthesitis

Chronic enthesitis is a persistent inflammation of the enthesis, the point where tendons, ligaments, or joint capsules attach to bone. In healthy tissue, the enthesis acts like a sturdy anchor, ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Acute Enthesitis

Dr. Azarel Abinader
Acute Enthesitis

Acute enthesitis is inflammation at the site where a tendon, ligament, or joint capsule attaches to bone (the enthesis). This inflammation develops rapidly—often within days—and causes pain, ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Axial Enthesitis

Dr. Azarel Abinader
Axial Enthesitis

Axial enthesitis is the inflammation of entheses—the sites where tendons, ligaments, or joint capsules attach to bone—specifically within the axial skeleton (spine, sacroiliac joints, rib cage, and ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Peripheral Enthesitis

Dr. Azarel Abinader
Peripheral Enthesitis

Peripheral enthesitis is the inflammation of entheses located outside the spine—specifically, the sites where tendons, ligaments, or joint capsules attach to the bones of the arms, legs, hands, or ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Enthesitis

Dr. Azarel Abinader
Enthesitis

Enthesitis is the inflammation of the entheses—the critical junctions where tendons, ligaments, or joint capsules attach to bone. These fibrocartilaginous or fibrous zones help dissipate mechanical ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Gouty Arthritis Mutilans

Dr. Azarel Abinader
Gouty Arthritis Mutilans

Gouty arthritis mutilans is an exceptionally rare and severe form of chronic tophaceous gout in which long-standing urate crystal deposits (tophi) lead to profound bone loss (osteolysis) and joint ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Juvenile Idiopathic Arthritis (JIA) Mutilans

Dr. Azarel Abinader
Juvenile Idiopathic Arthritis (JIA) Mutilans

Juvenile Idiopathic Arthritis (JIA) Mutilans is an extremely rare, but profoundly destructive form of chronic arthritis that occurs in children under 16 years of age. In JIA Mutilans, the immune ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Rheumatoid Arthritis Mutilans

Dr. Azarel Abinader
Rheumatoid Arthritis Mutilans

Rheumatoid arthritis mutilans is a rare, severe form of long‐standing rheumatoid arthritis characterized by aggressive bone resorption and joint destruction that leads to dramatic deformities and ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Psoriatic Arthritis Mutilans (PAM)

Dr. Azarel Abinader
Psoriatic Arthritis Mutilans (PAM)

Psoriatic arthritis mutilans (PAM) is the rarest and most severe form of psoriatic arthritis, characterized by profound joint inflammation that leads to bone destruction, joint collapse, and ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Arthritis Mutilans

Dr. Azarel Abinader
Arthritis Mutilans

Arthritis mutilans is a rare, severe form of inflammatory arthritis characterized by aggressive bone and joint destruction, most often affecting the hands and feet. In this condition, chronic ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Syndromic Unilateral Cranial Suture Fusion

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Syndromic Unilateral Cranial Suture Fusion

Syndromic unilateral cranial suture fusion—often termed syndromic unilateral coronal synostosis—occurs when one cranial suture on a single side of the skull closes prematurely as part of a broader ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Lambdoid Synostosis

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Lambdoid Synostosis

Lambdoid synostosis (also called lambdoid craniosynostosis) is a rare birth defect in which one or both of the lambdoid sutures at the back of an infant’s skull fuse too early, before the brain has ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Costal Synostosis

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Costal Synostosis

Costal synostosis is a medical condition in which two or more ribs join together prematurely by bone (ossify), rather than remaining separate and flexible. In a healthy chest wall, ribs are connected ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Craniosynostosis

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Craniosynostosis

Craniosynostosis is a birth condition in which one or more of the fibrous joints (sutures) between the bones of an infant’s skull close too early. Normally, these sutures remain open during infancy ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Unilateral Cranial Suture Fusion

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Unilateral Cranial Suture Fusion

Unilateral cranial suture fusion—often called unilateral craniosynostosis—is a birth condition in which one of the joints (sutures) between the bones of an infant’s skull closes too early on one ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Congenital Bilateral Vertebral Fusion

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Congenital Bilateral Vertebral Fusion

Congenital bilateral vertebral fusion is a rare but important spinal anomaly in which two or more adjacent vertebral bones are joined together from birth. This fusion alters the normal segmented ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Congenital Unilateral Vertebral Fusion

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Congenital Unilateral Vertebral Fusion

Congenital unilateral vertebral fusion is a birth condition in which two neighboring vertebrae on one side of the spine grow together instead of remaining separate. This fusion can affect any level ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Contralateral Pseudo‐Articulation

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Contralateral Pseudo‐Articulation

Contralateral pseudo-articulation is a specific form of lumbosacral transitional vertebra (LSTV) in which one side of the enlarged lumbar transverse process fuses completely with the sacrum, while ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Bilateral Complete Fusion

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Bilateral Complete Fusion

Bilateral Complete Fusion refers to a congenital or acquired condition in which two adjacent bony structures—most commonly vertebrae—become fully united on both sides, resulting in a continuous bone ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Unilateral Complete Fusion

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Unilateral Complete Fusion

Unilateral complete fusion is a congenital or acquired condition in which two anatomical structures—most commonly adjacent vertebrae, bones of the skull, or joints—become entirely joined together on ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Bilateral Pseudo‐Articulations (Bilateral Lumbosacral Transitional Vertebrae)

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Bilateral Pseudo‐Articulations (Bilateral Lumbosacral Transitional Vertebrae)

Bilateral pseudo-articulations refer to the presence of “false joints” on both sides of the spine, where the transverse processes of the lowest lumbar vertebra (usually L5) form abnormal ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Unilateral Pseudo-Articulation

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Unilateral Pseudo-Articulation

Unilateral pseudo-articulation is a congenital spinal anomaly in which one transverse process (usually of L5) abnormally enlarges and forms a “false joint” (pseudo-articulation) with the sacral ala ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Bilateral Dysplastic Transverse Processes

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Bilateral Dysplastic Transverse Processes

A transverse process is the bony projection on either side of a vertebra that serves as an attachment point for muscles and ligaments. In a dysplastic transverse process, these projections are ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Pseudarthrosis Fusion

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Pseudarthrosis Fusion

Pseudarthrosis fusion, often called nonunion, refers to the failure of bone segments to unite after an attempted surgical fusion, most commonly in the spine but also in long bones. Literally meaning ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Dysplastic Transverse Process Fusion

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Dysplastic Transverse Process Fusion

Dysplastic transverse process fusion (DTPF) is a congenital spine anomaly in which one or both transverse processes of a vertebra—most often the lowest lumbar vertebra (L5) but occasionally higher ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Pseudoarticulation Lumbosacral Fusion

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Pseudoarticulation Lumbosacral Fusion

Pseudoarticulation of the lumbosacral junction—sometimes called Bertolotti’s syndrome—is a condition in which an extra joint forms between the lowest lumbar vertebra (L5) and the top of the sacrum ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Congenital Lumbosacral Fusion

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Congenital Lumbosacral Fusion

Congenital lumbosacral fusion—also known as sacralization of L5 or a lumbosacral transitional vertebra (LSTV)—is a developmental anomaly in which the fifth lumbar vertebra (L5) is partially or ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Complete Lumbosacral Fusion

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Complete Lumbosacral Fusion

Complete lumbosacral fusion refers to the abnormal joining of the lowest lumbar vertebrae (usually L5) to the sacrum, the triangular bone at the base of the spine. In a healthy spine, a mobile joint ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Incomplete Lumbo-Sacral Fusion

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Incomplete Lumbo-Sacral Fusion

Incomplete lumbo-sacral fusion—sometimes called a lumbosacral transitional vertebra (LSTV)—is a congenital anomaly at the junction between the lowest lumbar vertebra (usually L5) and the sacrum. In ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Dysplastic Transverse Process

Dr. Mahsa Mehrazin, MD - Neurologist and Spinal Nerve Specialist
Dysplastic Transverse Process

A dysplastic transverse process is a congenital anomaly of the spine in which one or more vertebral transverse processes—usually at the lumbosacral junction—are abnormally enlarged (≥19 mm in width) ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Sacralization

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
Sacralization

Sacralization is a condition in which the lowest lumbar vertebra (usually L5) becomes partially or completely fused to the sacrum. In a normal spine, each lumbar vertebra moves a little; in ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Lumbarization of S1

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
Lumbarization of S1

Lumbarization of S1 is a congenital spinal anomaly in which the first sacral segment (S1) fails to fuse with the remaining sacrum and instead assumes characteristics of a lumbar vertebra. In a ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Transverse Process Fusion

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
Transverse Process Fusion

Transverse process fusion is a spinal condition in which the small bony projections (transverse processes) on the sides of adjacent vertebrae grow together instead of remaining separate. This ...

Degenerative Bones, Joints, and Spine Care (A - Z)

Pseudoarticulation Lumbarization

Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
Pseudoarticulation Lumbarization

Pseudoarticulation lumbarization is a form of lumbosacral transitional vertebra (LSTV) in which the first sacral segment (S1) fails to fuse fully with the remaining sacrum and instead forms a “false ...

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