You are using an outdated browser. Please upgrade your browser to improve your experience.

absence of fingerprints-congenital milia syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Absence 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.
Uniprot Description An autosomal dominant form of adermatoglyphia associated with congenital facial milia, acral blistering, digital contractures, and nail abnormalities. Adermatoglyphia is defined by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints.
Mondo Term and Equivalent IDs
MONDO:0007507:  absence of fingerprints-congenital milia syndrome
GARD:0002336: 
MESH:C537659: 
Orphanet:1658: 
SCTID:239011004: