Ulnar-mammary syndrome (Q94221): Difference between revisions
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Síndrome ulnar-mamária é um transtorno hereditário extremamente raro, caracterizado por malformações do raio ulnar, hipoplasia e disfunção das glândulas apócrinas axilares e mamárias, disfunção endócrina (hipogonadismo, obesidade), anomalias dentárias e malformações viscerais ocasionais. Os defeitos pós-axiais de membros variam desde a hipoplasia da falange terminal do quinto dedo até a ausência completa do antebraço e da mão. A ausência de mamas, pelos axilares e transpiração geralmente é parcial. As anomalias dentais incluem dentes caninos ectópicos, hipoplásicos e ausentes. | |||
| description / en | description / en | ||
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. | |||
Revision as of 09:21, 16 August 2026
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 |
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| 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. |
