Amelo-onycho-hypohidrotic syndrome

Orpha code: 1028OMIM code: 104570

Definition

A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungueal hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrymal punctae may be occasionally absent. There have been no further descriptions in the literature since 1975.

Disease data
Classification

Malformation syndrome

Synonyms
Ameloonychohypohidrotic ectodermal dysplasia
Ameloonychohypohidrotic syndrome
ORPHA code
1028
OMIM code
104570
ICD10 code
Q82.4
ICD11 code
LD27.0Y

No additional description.

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