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Absence of fingerprints-congenital milia syndrome
rareAbsence of fingerprints-congenital milia syndrome is 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.
- Identifiers
- MONDO:0007507 OMIM:129200Orphanet:1658
- Causal genes
- SMARCAD1
- Also known as
- absence of dermatoglyphics congenital milia · absence of dermatoglyphics-congenital milia syndrome · absence of fingerprints congenital milia · adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities · Baird syndrome
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