Bannayan-Riley-Ruvalcaba Syndrome (BRRS)
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic condition. It belongs to a family of disorders called PTEN hamartoma tumor syndrome (PHTS). The main features are a very large head ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate Syndrome
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 (athyr(e)osis) or with a severely under-developed ...
Baller–Gerold Syndrome (BGS)
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 the forearm (radial ray) are ...
Congenital Myopathy–Cleft Palate–Malignant Hyperthermia Syndrome
Congenital Myopathy–Cleft Palate–Malignant Hyperthermia Syndrome is a rare, inherited muscle disease starts at birth (congenital). Babies have weak muscles (a congenital myopathy), and many are born ...
Bagatelle–Cassidy Syndrome
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 (macrocephaly), wide-spaced eyes ...
Nigro-Spino-Dentatal Degeneration with Nuclear Ophthalmoplegia
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia is a rare, inherited brain disease. It mainly hurts three places: the substantia nigra (“nigro”), parts of the spinal pathways ...
Azorean Disease of the Nervous System
Azorean Disease of the Nervous System is an inherited brain and nerve disorder that gradually affects balance, walking, speech, and eye movements. The main problem is ataxia, which means “lack of ...
Autosomal Dominant Striatonigral Degeneration
Autosomal dominant striatonigral degeneration is an old name from the 1970s for a hereditary movement disorder first described in large Portuguese (Azorean) families. Doctors later realized it is the ...
Osteomesopyknosis
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 than usual on X-rays. Doctors call this ...
Autosomal Systemic Lupus Erythematosus Type 16
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 with harmful changes (mutations) in a ...
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Autosomal semi-dominant severe lipodystrophic laminopathy is a rare inherited disorder in which body fat is abnormally lost in some regions and may be preserved or increased in others, causing major ...
Autosomal Recessive Spondylometaphyseal Dysplasia, Mégarbané Type
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type (often shortened to SMD-MDM or Mégarbané type) is a very rare genetic bone disorder. A baby is affected from before birth. Growth is ...
Autosomal Recessive Spondyloepimetaphyseal Dysplasia (SEMD)
Autosomal recessive spondylo-epi-metaphyseal dysplasia is a rare inherited bone-growth disorder. “Spondylo-” means the spine is involved. “Epimetaphyseal” means the rounded ends of the long bones ...
Spondylocostal Dysostosis
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 in the usual way before birth. Several ...
Autosomal-Recessive Spondylocostal Dysostosis (SCDO)
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 rib bones also form abnormally. The ...
Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7)
Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is a very rare, inherited brain disorder that mainly affects the cerebellum (the balance and coordination center of the brain). People slowly ...
SNX14 – Autosomal Recessive Cerebellar Ataxia (SCAR20)
SNX14 autosomal recessive cerebellar ataxia—often called SCAR20—is a rare, inherited brain disorder that starts in infancy or early childhood. Children have poor balance and coordination (ataxia), ...
Autosomal Recessive Cerebellar Ataxia Caused by Mutation in SNX14 (SCAR20)
Autosomal Recessive Cerebellar Ataxia Caused by Mutation in SNX14 (SCAR20) is a rare, inherited brain disorder that starts in infancy or early childhood. Children develop problems with balance and ...
Autosomal Recessive Spinocerebellar Ataxia 20 (SCAR20)
Autosomal Recessive Spinocerebellar Ataxia 20 (SCAR20) is a very rare, inherited brain disorder that starts in infancy or early childhood. Children have trouble with balance and coordination (ataxia) ...
PMPCA – Autosomal Recessive Congenital Cerebellar Ataxia
PMPCA autosomal recessive congenital cerebellar ataxia is a rare inherited brain disorder that mainly affects the cerebellum, the part of the brain that controls balance and coordination. “Autosomal ...
