Rare Disease Library

Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

SOLAMEN syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Shprintzen-Goldberg syndrome

Marfanoid craniosynostosis syndrome · SGS

Simpson-Golabi-Behmel syndrome type 2

Lethal variant of Simpson-Golabi-Behmel syndrome · SGBS2

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Thiamine-responsive megaloblastic anemia syndrome

Rogers syndrome · TRMA

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

Townes-Brocks syndrome

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

Triple A syndrome

2A syndrome · 3A syndrome

W syndrome

Pallister-W syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome