Preferred Label : Ulnar-mammary syndrome;
ICD-11 definition : Ulnar-mammary 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.;
ICD-11 synonym : Schinzel syndrome;
Origin ID : 1508836700;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Ulnar-mammary 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.
