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Condition report · Metabolic

MDPL Syndrome

A rare condition causing an underdeveloped lower jaw, hearing loss, an aged appearance and loss of fat tissue (lipodystrophy), with related metabolic problems. It is caused by a change in one copy of POLD1, a gene needed for copying DNA.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Mandibular Hypoplasia, Deafness, Progeroid Features and Lipodystrophy Syndrome

Autosomal dominant

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.

Signs and symptoms

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.

What a diagnosis changes

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.

Genes analysed

Also known as

mandibular hypoplasia, deafness, progeroid features; mandibular hypoplasia-hearing loss-progeroid syndrome; MDP syndrome; MDPL

MONDO:0014157OMIM 615381Orphanet 363649MedGen 811623Sources: [2][1][3]

References

  1. Zuo B, Xu H, Pan Z, Mao L, Feng H, Zeng B et al., 2022. A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient. BMC medical genomics
  2. Wang LR, Radonjic A, Dilliott AA, McIntyre AD, Hegele RA, 2019. A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome. Journal of investigative medicine high impact case reports
  3. Murdocca M, Spitalieri P, Cappello A, Colasuonno F, Moreno S, Candi E et al., 2022. Mitochondrial dysfunction in mandibular hypoplasia, deafness and progeroid features with concomitant lipodystrophy (MDPL) patients. Aging

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