Diseases title

Ulnar-mammary syndrome )

Chromosomes2
Orpha Number: 3138
Synonym(s):
Schinzel syndrome, Ulnar-mammary syndrome of Pallister, UMS

Schinzel syndrome is an extremely rare inherited disorder characterized by malformations of the ulnar ray, hypoplasia and dysfunction of the axillary apocrine and mammary glands, endocrine dysfunction (hypogonadism, obesity), dental anomalies, and occasional visceral malformations. Postaxial limb defects range from hypoplasia of the terminal phalanx of the fifth digit to complete absence of the forearm and hand. The absence of breasts, axillary hair, and perspiration is generally partial. Dental abnormalities include ectopic, hypoplastic, and absent canine teeth. Additional findings may be present: pyloric, anal or subglottic stenosis, inguinal hernia or ventricular septal defect. Schinzel syndrome is inherited as an autosomal dominant trait with considerable intrafamilial variability. It is caused by mutations in the TBX3 gene located on chromosome 12q. Multidisciplinary follow-up is necessary.
source: Orphanet