Mammary-digital-nail syndrome

Orpha code: 238744OMIM code: 613689

Definition

Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.

Disease data
Classification

Malformation syndrome

Synonyms
MDN syndrome
Zespół MDN
Zespół paznokciowo-palcowo-sutkowy
Onycho-digito-mammary syndrome
ORPHA code
238744
OMIM code
613689
ICD10 code
Q87.2
ICD11 code
-

No additional description.

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