Rare Disease Library

Rubinstein-Taybi syndrome

Broad thumb-hallux syndrome · Broad thumbs-halluces syndrome

Acrofacial dysostosis, Weyers type

Curry-Hall syndrome · Weyers acrodental dysostosis

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Brachydactyly-long thumb syndrome

Brachydactyly, long thumb type

CHARGE syndrome

CHARGE association · Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome

Frank-Ter Haar syndrome

Ter Haar syndrome

Haddad syndrome

Congenital central alveolar hypoventilation-Hirschsprung disease syndrome · Ondine-Hirschsprung disease

Hall-Riggs syndrome

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Hemiparkinsonism-hemiatrophy syndrome

HP-HA syndrome

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Infantile spasms-broad thumbs syndrome

Tsao-Ellingson syndrome

Isolated anterior cervical hypertrichosis

Hairy throat syndrome · Tsukahara-Kajii syndrome

Orofaciodigital syndrome type 5

Oral-facial-digital syndrome type 5 · Orofaciodigital syndrome, Thurston type

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

Sheldon-Hall syndrome

SSH · DA2B

Tako-Tsubo cardiomyopathy

Ampulla cardiomyopathy · Apical ballooning syndrome

Trigonocephaly-broad thumbs syndrome

Hunter-Rudd-Hoffmann syndrome

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome