Athyroidal hypothyroidism with spiky hair and cleft palate syndrome is a very rare genetic disorder in which a baby is born without a thyroid gland ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Baller–Gerold syndrome (BGS) is a very rare genetic condition in which some skull bones fuse too early (craniosynostosis) and the bones on the thumb-side of ...
Congenital Myopathy–Cleft Palate–Malignant Hyperthermia Syndrome is a rare, inherited muscle disease starts at birth (congenital). Babies have weak muscles (a ...
Bagatelle–Cassidy syndrome is an extremely rare condition first described in a single child in the medical literature. The main pattern includes a large head ...
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia is a rare, inherited brain disease. It mainly hurts three places: the substantia nigra ...
Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Azorean Disease of the Nervous System is an inherited brain and nerve disorder that gradually affects balance, walking, speech, and eye movements. The main ...
Autosomal dominant striatonigral degeneration is an old name from the 1970s for a hereditary movement disorder first described in large Portuguese (Azorean) ...
Osteomesopyknosis is a very rare, benign (non-cancerous) bone condition in which parts of the axial skeleton—mainly the spine and pelvis—look denser and whiter ...
Autosomal systemic lupus erythematosus type 16 is a rare, inherited kind of lupus. Doctors often shorten the name to SLEB16. It happens when a person is born ...
Autosomal semi-dominant severe lipodystrophic laminopathy is a rare inherited disorder in which body fat is abnormally lost in some regions and may be ...
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type (often shortened to SMD-MDM or Mégarbané type) is a very rare genetic bone disorder. A baby ...
Autosomal recessive spondylo-epi-metaphyseal dysplasia is a rare inherited bone-growth disorder. “Spondylo-” means the spine is involved. “Epimetaphyseal” ...
Spondylocostal dysostosis (SCDO) is a rare, inherited condition that affects the backbone (spine) and the ribs. In SCDO, many vertebrae do not form or separate ...
Autosomal recessive spondylocostal dysostosis is a rare birth condition where the spine bones (vertebrae) do not form and separate in the normal way, and the ...
Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is a very rare, inherited brain disorder that mainly affects the cerebellum (the balance and coordination ...
SNX14 autosomal recessive cerebellar ataxia—often called SCAR20—is a rare, inherited brain disorder that starts in infancy or early childhood. Children have ...
Autosomal Recessive Cerebellar Ataxia Caused by Mutation in SNX14 (SCAR20) is a rare, inherited brain disorder that starts in infancy or early childhood. ...
Autosomal Recessive Spinocerebellar Ataxia 20 (SCAR20) is a very rare, inherited brain disorder that starts in infancy or early childhood. Children have ...
PMPCA autosomal recessive congenital cerebellar ataxia is a rare inherited brain disorder that mainly affects the cerebellum, the part of the brain that ...
Autosomal recessive congenital cerebellar ataxia due to PMPCA mutation is a genetic brain movement disorder that starts in infancy or early childhood. ...
