Chondroectodermal dysplasia with night blindness is a very rare genetic disease. It mainly affects how bones grow and how “ectodermal” tissues, such as nails and teeth, develop. At the same time, it ...
Chondrodysplasia with disorder of sex development syndrome is a very rare genetic condition that affects both the bones and the way the sex organs and sex chromosomes work together. In most reported ...
Chondrodysplasia-pseudohermaphroditism syndrome is an extremely rare genetic condition that affects bone growth, brain development, and sex development at the same time. Doctors now often call it ...
Chondrodysplasia with joint dislocations, gPAPP type, is a very rare genetic bone disease. Babies are usually born with short arms and legs, loose joints, and joints that are already out of place, ...
Chondrodysplasia punctata, Toriello type is a very rare inherited bone growth disorder. It mainly affects the ends of the bones near the joints, where small spots of extra calcium (called ...
Chondrodysplasia punctata, tibial-metacarpal type, is a very rare birth bone condition. It mainly affects the small bones of the hands and the shin bone (tibia). The short bones have tiny spots of ...
Chondrodysplasia punctata 2, X-linked dominant (often written as CDPX2) is a rare genetic disease that mainly affects bones, skin, and eyes. In this condition, small spots of extra calcium appear at ...
Chondrodysplasia punctata with stippled epiphyses is a name for a group of rare bone growth disorders, not just one single disease. In all of them, small dot-like calcium spots appear inside the ...
Chondrodysplasia calcificans congenita is a very rare genetic bone growth disorder that belongs to the broader group called chondrodysplasia punctata. In this condition, tiny spots of extra calcium ...
Chondrodysplasia punctata (CDP) is a group of very rare bone growth disorders that start before birth. In this condition, areas of cartilage (the soft “model” of future bone) develop tiny spots of ...
Chondrodysplasia calcificans metaphysealis is a very rare genetic bone disease. It belongs to a group of bone growth problems called metaphyseal chondrodysplasias. In this disease, the ends of the ...
Chondrodysplasia Blomstrand type (also called Blomstrand lethal chondrodysplasia, Blomstrand osteochondrodysplasia, BOCD) is a very rare genetic bone growth problem that starts before birth. In this ...
Familial articular chondrocalcinosis is a rare inherited joint disease in which tiny crystals of calcium pyrophosphate dihydrate (CPPD) slowly build up in the cartilage and soft tissues around the ...
Chondrocalcinosis means “calcium in the cartilage.” In this condition, very tiny crystals made from a salt called calcium pyrophosphate build up inside the smooth cartilage that covers the ends of ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
Osteogenesis imperfecta-congenital joint contractures syndrome combines the bone fragility of osteogenesis imperfecta with congenital (from birth) joint contractures. Children are prone to fractures, ...
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 ...
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. ...
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 ...
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 ...
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 ...
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. ...
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 ...
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 ...
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 ...
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, ...
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 ...
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 ...
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. ...
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 ...
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. ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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. ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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) ...
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 ...
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 ...
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 ...
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 ...
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, ...
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 ...
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, ...
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 ...
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 ...
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, ...
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 ...
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 ...
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 ...
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 ...
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, ...
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 ...
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 ...
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 ...
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 ...
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, ...
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 ...
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, ...
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, ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
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 ...
