Inflammation of myoseptum is another medical name for childhood type dermatomyositis, also called juvenile dermatomyositis (JDM). It is a rare disease in ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Childhood dermatomyositis (often called juvenile dermatomyositis, JDM) is a rare disease where a child’s immune system attacks tiny blood vessels in the skin ...
Paediatric optic nerve glioma is a usually slow-growing brain/nerve tumor that starts in the supportive “glial” cells around the optic nerve (the cable that ...
Glioma of the paediatric visual pathway means a brain tumour that grows along the child’s “seeing wires.” These wires include the optic nerves (behind each ...
Childhood optic tract glioma is a type of brain tumour that grows in the optic tract, which is the cable of nerve fibres that carries visual information from ...
Childhood optic nerve glioma is a slow-growing brain tumor that starts in the cells that support and protect the optic nerve, the cable that carries sight ...
Paroxysmal exercise-induced dystonia (PED) is a rare brain movement problem. It causes short attacks of abnormal movements when a person does long or strong ...
Childhood onset GLUT1 deficiency syndrome 2 (GLUT1DS2) is a rare brain disease that starts in childhood and mainly causes short attacks of strange movements in ...
Childhood medulloblastoma is a cancer that starts in a part of the brain called the cerebellum. The cerebellum sits at the back and bottom of the brain and ...
Pediatric melanoma (also called childhood melanoma) is a cancer that starts in the pigment-making cells (melanocytes) of a child’s skin, eye, or very rarely ...
Childhood malignant melanoma is a type of skin cancer that starts in pigment-making cells called melanocytes in a child or teenager. These cells give skin, ...
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a very rare genetic brain disease that starts in babies or young children. In this ...
Symbiotic psychosis is a rare mental health problem where two or more people who are very close to each other share the same strange belief (delusion). One ...
Heller syndrome is an old name for a rare brain and development problem in children. Doctors now usually call it childhood disintegrative disorder (CDD), and ...
Disintegrative psychosis is an old name for a very rare child development problem now called childhood disintegrative disorder (CDD). In this condition, a ...
Dementia infantilis is an old name for a rare brain and development problem that is now called childhood disintegrative disorder (CDD) or Heller syndrome. It ...
Childhood disintegrative disorder (CDD) is a very rare brain and development problem in children. A child grows and learns normally for at least the first 2–3 ...
Telencephalon juvenile astrocytoma is a brain tumor that grows from special support cells in the brain called astrocytes, in the upper part of the brain (the ...
Pediatric cerebral astrocytoma is a brain tumour that starts in the main part of a child’s brain called the cerebrum. The cerebrum is the “thinking” part of ...
Pediatric astrocytoma of the cerebrum is a brain tumor in a child that starts from special support cells in the brain called astrocytes. These cells are ...
A childhood astrocytic tumor of the telencephalon is a brain growth that begins in special support cells called astrocytes, inside the large upper part of the ...
Childhood cerebral astrocytoma is a brain tumor that starts in special support cells of the brain called astrocytes. Astrocytes are star-shaped cells that help ...
Paediatric astrocytoma of the cerebellum is a brain tumour that starts from special support cells in the brain called astrocytes, in the back part of the brain ...
A childhood astrocytic tumor of the cerebellum is a growth that starts from special support cells in the brain called astrocytes, which look like small stars ...
Cerebellum juvenile astrocytoma usually means a pilocytic astrocytoma that grows in the cerebellum of a child or teenager. The cerebellum is the lower back ...
A cerebellum childhood astrocytic tumor is a brain tumor that grows from “astrocytes,” which are star-shaped support cells in the brain, inside the cerebellum ...
Childhood cerebellar astrocytic neoplasm is a brain tumor that starts from special support cells in the brain called astrocytes. These cells are star-shaped ...
A pediatric carcinoid tumor (also called a childhood gastrointestinal neuroendocrine tumor) is a rare type of cancer that starts in special hormone-making ...
A childhood carcinoid tumor is a rare type of cancer that starts from neuroendocrine cells in a child’s body. These special cells act like both nerve cells and ...
Paediatric brain stem glioma is a tumour made from “glial cells” (support cells in the brain) that grows in the brain stem of a child. The brain stem is the ...
Pediatric brain stem glioma means a tumor that starts from glial (support) cells inside the brain stem in a child. The brain stem is the “bridge” between the ...
A childhood brain stem glioma is a tumor that starts from glial cells (helper cells of the brain) and grows inside the brainstem in a child. The brainstem is ...
Speech-language disorder type 1” is not an official medical name. In this article, we will use it to mean a developmental speech and language disorder that ...
Speech and language disorder with orofacial dyspraxia is a brain-based (neurological) problem where a child finds it very hard to plan and control the ...
Pure childhood apraxia of speech is a speech problem in young children where the brain has trouble planning and sending the right signals to the lips, tongue, ...
Isolated developmental verbal dyspraxia is a childhood speech problem where the brain has trouble planning and organising the movements needed for clear ...
Developmental verbal apraxia (also called childhood apraxia of speech) is a speech problem that starts in early childhood. The child knows what they want to ...
Developmental verbal dyspraxia (DVD) is a speech problem that starts in childhood. It is a motor speech disorder, which means the main problem is how the brain ...
Childhood apraxia of speech is a speech disorder where the child’s brain has trouble planning and coordinating the movements of the lips, tongue, jaw, and ...
Pediatric acute lymphoid leukemia (ALL) is a cancer of the blood and bone marrow that happens in babies, children and teenagers. In this disease, very early ...
Paediatric acute lymphogenous leukaemia (usually called childhood acute lymphoblastic leukaemia or ALL) is a blood cancer in children. In this disease, the ...
Paediatric acute lymphocytic leukaemia (also called acute lymphoblastic leukaemia, ALL) is a blood cancer that starts in young white blood cells called ...
Pediatric acute lymphoblastic leukemia (ALL) is a fast-growing blood cancer that starts in the bone marrow, where new blood cells are made. In ALL, early white ...
Childhood precursor lymphoblastic leukemia is a fast-growing blood cancer in children where very young white blood cells (called lymphoblasts) grow out of ...
Childhood acute lymphoid leukemia (ALL) is a blood cancer that starts in the bone marrow, the soft part inside bones where new blood cells are made. In this ...
Childhood acute lymphogenous leukaemia (ALL) is a cancer of the blood and bone marrow, the soft center of bones where new blood cells are made. In this ...
Childhood acute lymphocytic leukemia (ALL) is a cancer of the blood and bone marrow that happens mostly in children. In this disease, very young white blood ...
Childhood acute lymphoblastic leukemia (ALL) is a blood cancer that starts in the bone marrow, the soft center of the bones where blood cells are made. In this ...
Pyknolepsy is an old medical word that doctors used for a special kind of epilepsy in children. Today it is mostly called childhood absence epilepsy. In this ...
Childhood absence epilepsy is a kind of epilepsy that starts in young children, usually between 4 and 10 years of age. In this condition, a child has many ...
X-linked dominant congenital hemidysplasia with ichthyosiform nevus and limb defects is usually called CHILD syndrome. It is a very rare genetic disease ...
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects is usually called CHILD syndrome. It is a very rare genetic condition. “Congenital” ...
CHILD syndrome is a very rare genetic disease that starts before birth. It mainly affects one side of the body. The name “CHILD” is an English short form ...
Hutchinson lupus pernio type is an old name that doctors used for a special kind of skin lupus now called chilblain lupus erythematosus (CHLE). It is a ...
Chilblain lupus erythematosus is a rare type of lupus that mainly affects the skin of fingers, toes, heels, ears, and nose. It causes red-purple, swollen, ...
Chilblain lupus is a rare type of lupus that mainly affects the skin of the fingers, toes, ears and nose. It causes red-purple, swollen, painful patches or ...
Chikungunya virus infectious disease is an illness caused by a tiny germ called the chikungunya virus. This virus enters the human body mainly through the bite ...
Chikungunya Virus Disease or Disorder is caused by the chikungunya virus. This virus is an RNA virus in the alphavirus group of the Togaviridae family. It ...
Chikungunya hemorrhagic fever is a very rare and very severe form of chikungunya virus infection. Chikungunya is a virus spread by Aedes mosquitoes and usually ...
Chikungunya fever is an infection caused by the chikungunya virus, which is a type of RNA virus in the alphavirus group. The virus spreads to people ...
Arnold–Chiari malformation type II is a birth (congenital) problem of the back part of the brain and the upper spinal canal. In this condition, the lower parts ...
Chiari type II malformation is a birth defect in the back part of the brain and upper spine. In this condition, parts of the cerebellum (the balance part of ...
Arnold–Chiari malformation type 1 (often called Chiari I) is a problem in the back part of the head where the skull is a bit too small or shaped in an unusual ...
Arnold Chiari type I malformation (often called Chiari type 1) is a problem with the shape and size of the back part of the skull. The space at the back of the ...
Chiari type I malformation is a problem in the place where the brain meets the spinal cord. In this condition, the lower part of the brain called the ...
Generalised enchondromatosis with platyspondyly is an extremely rare bone growth problem. It means that many small benign (non-cancer) cartilage tumours, ...
Cheirospondyloenchondromatosis is a very rare bone disease that starts very early in life, often in babies or young children. It belongs to a group of diseases ...
Cheilitis glandularis is a rare, long-lasting inflammation that mainly affects the lower lip. In this condition, the many tiny salivary glands inside the lip ...
Hereditary leukomelanopathy is an old medical name that is now mostly used as another name for Chediak–Higashi syndrome (CHS). It is a very rare disease that a ...
Hereditary gigantism of cytoplasmic organelles is an old scientific way to describe a rare inherited disease now known as Chediak–Higashi syndrome (CHS). In ...
Granulation anomaly of leukocytes is a rare genetic disease where the white blood cells have huge, abnormal granules (tiny packets) inside them. These strange ...
Chediak–Steinbrinck–Higashi syndrome, usually called Chediak–Higashi syndrome (CHS), is a very rare genetic disease that mainly affects the immune system, ...
Chediak-Steinbrinck-Higashi syndrome (usually called Chediak-Higashi syndrome or CHS) is a very rare inherited disease. It affects the body’s immune system, ...
Beguez-Cesar disease is an older name for a rare inherited immune system disorder that doctors now usually call Chediak–Higashi syndrome (CHS). In this ...
Chediak-Higashi syndrome (CHS) is a very rare inherited disease. It mainly hurts the immune system, the skin, the eyes, the blood, and sometimes the brain and ...
Charlie M syndrome is an extremely rare condition present from birth that affects how the face, mouth, tongue, jaw, teeth, hands, and feet grow and form. ...
Autosomal recessive spastic ataxia type 6 (often called ARSACS) is a rare genetic brain and nerve disease that starts in childhood and slowly gets worse over ...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (often shortened to ARSACS) is a rare brain and nerve disease that starts in early childhood and ...
Charlevoix-Saguenay spastic ataxia is a rare genetic brain and nerve disease that mainly affects movement. Doctors also call it ARSACS. In this disease, the ...
Hittner-Hirsch-Kreh syndrome is a very rare condition in which a baby is born with three main problems together: very small eyes or eye gaps called coloboma, ...
Hall–Hittner syndrome is another name for the “classic” form of CHARGE syndrome, a rare condition present from birth that affects many parts of the body at the ...
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome is a rare condition that a baby ...
CHARGE syndrome is a rare genetic condition that is present from birth and affects many parts of the body at the same time. It is called “CHARGE” because each ...
Peroneal muscular atrophy of demyelinating type is a long-term (chronic) nerve disease where the protective covering of certain nerves (called myelin) slowly ...
Inherited dominant hypertrophic neuropathy is a long name for a group of nerve diseases where the covering of the nerves becomes thick and damaged because of a ...
Hereditary motor and sensory neuropathy type 1 (HMSN I) is a genetic disease that slowly damages the peripheral nerves. These nerves carry signals from the ...
Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a lifelong, inherited nerve disease that mainly damages the “covering” (myelin) of the long nerves in the arms ...
Autosomal dominant demyelinating Charcot-Marie-Tooth disease is a long-term nerve disease that mainly damages the peripheral nerves, which are the nerves ...
Charcot-Marie-Tooth disease type I (CMT1) is a group of inherited nerve diseases that damage the myelin, the “insulation” around the peripheral nerves. These ...
PMP2-related hereditary motor and sensory neuropathy type 1 is a rare inherited nerve disease that mainly affects the long nerves in the arms and legs. These ...
PMP2-related Charcot-Marie-Tooth neuropathy type 1 is a very rare inherited nerve disease. It affects the long nerves in the arms and legs. These nerves carry ...
PMP2-related Charcot-Marie-Tooth disease type 1 (often called PMP2-related CMT1 or CMT1G) is a very rare inherited nerve disease. It happens when the PMP2 ...
Charcot-Marie-Tooth disease, demyelinating, type 1G (often written CMT1G) is a rare, inherited nerve disease that slowly damages the long nerves in the arms ...
Charcot–Marie–Tooth neuropathy dominant intermediate A (short name: CMTDIA) is a very rare, inherited nerve disease that damages the long nerves in the arms ...
Charcot-Marie-Tooth disease dominant intermediate II is a rare inherited nerve disease. It damages the peripheral nerves, which are the long nerves that carry ...
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (CMTDIA or DI-CMTA) is a very rare inherited nerve disease. It affects the “peripheral” ...
Charcot-Marie-Tooth disease, axonal, type 2GG (often shortened to CMT2GG) is a very rare, inherited nerve disease that mainly affects the long nerves in the ...
Charcot-Marie-Tooth neuropathy type 2D (CMT2D) is a rare inherited nerve disease that mainly affects the small nerves to the hands and feet. It is an “axonal” ...
ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 is a rare inherited nerve disease. It happens when there is a harmful change (mutation) in ...
ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 (often called CMT2DD) is a very rare inherited nerve disease. It mainly damages the ...
Charcot-Marie-Tooth disease, axonal, type 2DD (CMT2DD) is a rare inherited nerve disease. It mainly damages the long nerves that carry signals to and from the ...
Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres is a very rare inherited nerve ...
Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers is a very rare inherited nerve ...
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome is a very rare inherited nerve disease. It affects the nerves that control movement ...
Rosenberg-Chutorian syndrome is an extremely rare genetic nerve disease. It mainly affects three parts of the body at the same time: the ears (hearing), the ...
PRPS1-related Charcot-Marie-Tooth neuropathy X type 5 (often called CMTX5) is a very rare, inherited nerve disease. It mainly affects the long nerves of the ...
Distal neurogenic amyotrophy is a general medical phrase that means nerve-related muscle wasting that mainly affects the far (distal) parts of the arms and/or ...
Familial opticoacoustic nerve degeneration and polyneuropathy is a very rare inherited nerve disease in which three main problems happen together: damage to ...
Charcot-Marie-Tooth neuropathy X-linked recessive 5 (often shortened to CMTX5) is a very rare inherited nerve disease that mainly damages the long nerves in ...
Charcot-Marie-Tooth disease X-linked recessive 5 (often called CMTX5) is a very rare, inherited nerve disease. It mainly damages the long nerves to the feet, ...
Cowchock syndrome is a very rare genetic nerve disease. It mainly affects the long nerves in the arms and legs, the hearing nerve, and sometimes the brain. It ...
Charcot-Marie-Tooth neuropathy X type 4 (often written as CMTX4) is a very rare, inherited nerve disease. It mainly damages the long nerves that control ...
