Orofaciodigital syndrome type 1

Also known as: OFD1 syndrome

X-linked dominant ciliopathy with oral, facial and digital anomalies and renal cysts.

Medical specialty: Nephrology
Subspecialty: Nephrology / Hereditary kidney disease
Sex & age distribution: Male: affected, mostly lethal prenatally; Female: affected; Children: yes, birth
Gene(s) involved: OFD1

Etiology & mechanism

OFD1 loss of function affects cilia.

Gene(s) involved (1)

OFD1

Symptoms & signs (8)

alopeciacleft palateintellectual disabilitylobulated tonguemiliapolycystic kidneyspolydactylysyndactyly

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.