Mandibular Hypoplasia, Deafness, Progeroid Features and Lipodystrophy Syndrome
Autoszomális domináns
Caused by a change in one copy of POLD1, which encodes DNA polymerase delta; most people share the same recurrent small in-frame deletion. It usually arises de novo.
Tünetek és jelek
Features develop through childhood and adolescence: a small lower jaw, sensorineural hearing loss, skin changes and loss of fat under the skin of the limbs, giving an aged appearance. Raised blood fats (hypertriglyceridaemia) have been reported. Hypogonadism and joint contractures have also been reported.
Mit változtat a diagnózis
Regular monitoring of metabolic health with treatment of complications, plus hearing support. Most cases arise de novo, so genetic counselling and parental testing help clarify recurrence risk.
Vizsgált gének
Más néven
mandibular hypoplasia, deafness, progeroid features; mandibular hypoplasia-hearing loss-progeroid syndrome; MDP syndrome; MDPL
