Potocki–Shaffer syndrome

Also known as: 11p11.2 deletion syndrome

Contiguous deletion causing multiple exostoses and parietal foramina.

Medical specialty: Genetics
Subspecialty: Genetics / Chromosomal disorders
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes
Gene(s) involved: ALX4, EXT2, PHF21A

Etiology & mechanism

Deletion of EXT2 and ALX4.

Gene(s) involved (3)

ALX4EXT2PHF21A

Symptoms & signs (5)

craniofacial anomaliesintellectual disabilitymultiple exostosesparietal foraminasyndactyly

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