Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

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Synonyms: MDP syndrome | MDPL syndrome | Mandibular hypoplasia-hearing loss-progeroid syndrome

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 hypertriglyceridemia and diabetes mellitus/insulin resistance.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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