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Mandibuloacral dysplasia
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Mandibuloacral dysplasia

Mandibuloacral dysplasia is a condition characterized by abnormalities in bone development, skin pigmentation, and fat distribution.

Overview

Mandibuloacral dysplasia causes a variety of physical abnormalities. Affected individuals may experience slow growth after birth and are often born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), resulting in a small chin and sloped shoulders. Other skeletal issues include loss of bone from the tips of the fingers (acroosteolysis), delayed closure of skull bones, and joint deformities (contractures).

Skin abnormalities, such as mottled or patchy pigmentation, are common. Some individuals exhibit features of premature aging (progeria), including thin skin, hair loss, tooth loss, and a beaked nose. Metabolic problems, such as diabetes, may also occur.

Lipodystrophy

A common feature is a lack of fatty tissue under the skin (lipodystrophy). The condition is divided into two types based on fat distribution:

  • Type A (MADA): Partial lipodystrophy; loss of fatty tissue from the torso and limbs, with potential buildup around the neck and shoulders.
  • Type B (MADB): Generalized lipodystrophy; loss of fatty tissue in the face, torso, and limbs.

Causes

The two forms are caused by mutations in different genes involved in maintaining the structure of the nuclear envelope:

  • LMNA gene: Mutations cause MADA. This gene provides instructions for making lamin A and lamin C proteins, which act as scaffolding for the nuclear envelope.
  • ZMPSTE24 gene: Mutations cause MADB. This gene is involved in processing immature lamin A into mature lamin A. Mutations lead to a buildup of the immature protein and a shortage of the mature version.

Inheritance

Mandibuloacral dysplasia is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations. Parents of an affected individual each carry one copy of the mutated gene but typically do not show symptoms.

Frequently Asked Questions

Look for a small, under‑developed mandible (small chin), short clavicles, and finger tip bone loss (acroosteolysis). Skin may show mottled pigmentation or thinness, and there may be lipodystrophy—loss of subcutaneous fat in the trunk and limbs. Early growth delay and joint contractures are also common.
Lipodystrophy can lead to increased visceral fat and insulin resistance. Focus on a nutrient‑dense diet with adequate protein, healthy fats, and complex carbohydrates. Monitor caloric intake to avoid excess weight gain, and consider consulting a dietitian experienced with lipodystrophy for personalized guidance.===
DNA sequencing of the LMNA gene identifies mutations causing MADA (partial lipodystrophy), while sequencing the ZMPSTE24 gene confirms MADB (generalized lipodystrophy). A positive result, combined with clinical findings, establishes the diagnosis.
Treatments mirror standard diabetes care: regular glucose monitoring, a balanced diet low in simple sugars, weight‑appropriate physical activity, and insulin or oral hypoglycemics as prescribed. Early intervention can improve long‑term outcomes.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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