Orphanet: AREDYLD syndrome

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AREDYLD syndrome

Disease definition

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.

ORPHA:1133

Classification level: Disorder

Synonym(s):
- Acrorenal defect-ectodermal dysplasia-diabetes syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Neonatal
ICD-10: Q87.8
OMIM: 207780
UMLS: C0342280
MeSH: C537427
GARD: 8509
MedDRA: -

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AREDYLD syndrome

ORPHA:1133

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