Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

Orpha code: 363649OMIM code: 615381

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.

Disease data
Classification

Disease

Synonyms
MDP syndrome
Zespół MDP
MDPL syndrome
Mandibular hypoplasia-hearing loss-progeroid syndrome
ORPHA code
363649
OMIM code
615381
ICD10 code
E34.8
ICD11 code
-

No additional description.

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