Rare Disease Library

Freeman-Sheldon syndrome

Craniocarpotarsal dysplasia · Craniocarpotarsal dystrophy

Arthrogryposis multiplex congenita-whistling face syndrome

Illum syndrome

Acropectorovertebral dysplasia

F syndrome

AIDS wasting syndrome

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

Campomelia, Cumming type

Cumming syndrome

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

FATCO syndrome

Hecht-Scott syndrome · Fibular aplasia-tibial campomelia-oligosyndactyly syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Femoral-facial syndrome

FFS · FHUFS

Fragile X syndrome

FRAXA syndrome · FXS

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Frontonasal dysplasia

Median cleft face syndrome

Furlong syndrome

Marfanoid habitus-craniosynostosis syndrome

Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome

Liang-Wang syndrome

Iridocorneal endothelial syndrome

ICE syndrome

Jung syndrome

KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome

PERCHING syndrome

Marcus-Gunn syndrome

Jaw-winking syndrome · Mandibulo-palpebral synkinesis-ptosis syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Orofaciodigital syndrome type 7

OFD7 · Oral-facial-digital syndrome type 7

Peeling skin syndrome

Deciduous skin · Familial continuous skin peeling syndrome

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

VIPoma

Diarrheogenic islet cell tumor · Pancreatic cholera

W syndrome

Pallister-W syndrome

WAGR syndrome

Del(11)(p13) · Deletion 11p13

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

WILD syndrome · Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome

West syndrome

WHIM syndrome

WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome

White-Sutton syndrome

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome