Trichorhinophalangeal syndrome

Also known as: TRPS type I-III

Sparse hair, pear-shaped nose and cone-shaped epiphyses.

Medical specialty: Dermatology
Subspecialty: Dermatology / Hair disorders
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, features visible in childhood
Gene(s) involved: TRPS1, TRPS2

Etiology & mechanism

TRPS1 haploinsufficiency affecting chondrocyte and hair follicle development.

Gene(s) involved (2)

TRPS1TRPS2

Symptoms & signs (6)

cone-shaped epiphyseslegg–calvé–perthes-like hip diseaselong philtrumpear-shaped noseshort staturesparse scalp hair

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