GARD Rare Disease Listings

Saal Bulas syndrome

Also known as: Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum

Sabinas brittle hair syndrome

Also known as: Brittle hair and mental deficit Sabinas syndrome

Saccharopinuria

Also known as: Saccharopine dehydrogenase deficiency

Sackey Sakati Aur syndrome

Also known as: Aur syndrome Pancytopenia multiple congenital anomalies Multiple dysmorphic features and pancytopenia

Sacral hemangiomas multiple congenital abnormalities

Sacral meningocele conotruncal heart defects

Also known as: Sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck Kousseff syndrome

Sacral plexopathy

Sacrococcygeal Teratoma

Saethre-Chotzen syndrome

Also known as: Acrocephalo-syndactyly, type 3 ACS3 Chotzen syndrome Acrocephaly, skull asymmetry, and mild syndactyly ACS 3 Acrocephalosyndactyly type 3 SCS Blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)

Saito Kuba Tsuruta syndrome

Also known as: Fibulo ulnar hypoplasia renal anomalies Fibuloulnar aplasia or hypoplasia with renal abnormalities

Sakoda complex

Also known as: Sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate

Salcedo syndrome

Also known as: Nail patella like renal disease Glomerular basement membrane disease, nail-patella syndrome type

Salivary gland cancer, adult

Salivary gland type cancer of the breast

Salla disease

Also known as: Sialuria, Finnish type