Absence of fingerprints-congenital milia syndrome

Orpha code: 1658OMIM code: 129200

Definicja

A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.

Disease data
Klasyfikacja

Disease

Synonimy
Absence of dermatoglyphics-congenital milia syndrome
Brak dermatoglifów - prosaki wrodzone
Zespół Bairda
Baird syndrome
Basan-Baird syndrome
Kod ORPHA
1658
Kod OMIM
129200
Kod ICD10
Q82.8
Kod ICD11
LD27.0Y

No additional description.

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