Rare Disease Library

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

SAMS syndrome

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SOFT syndrome

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

SOPH syndrome

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

Systemic cystic angiomatosis-Seip syndrome

Brunzell syndrome

Thiamine-responsive megaloblastic anemia syndrome

Rogers syndrome · TRMA

Thrombocytopenia-absent radius syndrome

TAR syndrome

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

Tricho-dento-osseous syndrome

TDO syndrome

Trichodental syndrome

Kersey syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

Ulnar-mammary syndrome

Pallister ulnar-mammary syndrome · Schinzel syndrome

W syndrome

Pallister-W syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome