Absence of fingerprints-congenital milia syndrome

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Name:
Absence of fingerprints-congenital milia syndrome
Description:
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.
ORPHAcode:
1658
Synonyms:
Absence of dermatoglyphics-congenital milia syndrome
Baird syndrome
Basan-Baird syndrome
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14