AREDYLD syndrome

Orpha code: 1133OMIM code: 207780

Definicja

A rare genetic disease characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Acrorenal defect-ectodermal dysplasia-diabetes syndrome
Defekt kończynowo-nerkowy - dysplazja naskórka - cukrzyca
Kod ORPHA
1133
Kod OMIM
207780
Kod ICD10
Q87.8
Kod ICD11
LD27.0Y

No additional description.

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