Sensenbrenner syndrome

Also known as: Cranioectodermal dysplasia

Ciliopathy with craniosynostosis, ectodermal anomalies and nephronophthisis.

Medical specialty: Genetics
Subspecialty: Genetics / Ciliopathies
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes
Gene(s) involved: IFT122, IFT43, IFT52, WDR19, WDR35

Etiology & mechanism

Intraflagellar transport defect.

Gene(s) involved (5)

IFT122IFT43IFT52WDR19WDR35

Symptoms & signs (6)

craniosynostosishepatic fibrosisnarrow thoraxnephronophthisisshort limbssparse hair

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