Orphanet: Mandibular hypoplasia deafness progeroid features lipodystrophy syndrome

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Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

Disease definition

A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglycemia and diabetes mellitus/insulin resistance.

ORPHA:363649

Classification level: Disorder

Synonym(s):
- MDP syndrome
- MDPL syndrome
- Mandibular hypoplasia-hearing loss-progeroid syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Childhood
ICD-10: E34.8
OMIM: 615381
UMLS: -
MeSH: -
GARD: 10989
MedDRA: -

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Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

ORPHA:363649

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