Ulnar-mammary syndrome (Q94221)
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Ulnar-mammary syndrome is an extremely rare inherited disorder characterised 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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1508836700 |
||
| English | Ulnar-mammary syndrome |
Ulnar-mammary syndrome is an extremely rare inherited disorder characterised 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. |
Statements
CID11:ID_1508836700
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