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Start free with EleplanMandibuloacral dysplasia
ORPHA:2457Malformation syndrome
Also called MAD
What it is
Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
12- Abnormality of skin pigmentationDiagnostic criterion
- Contractures of the large jointsDiagnostic criterion
- Full cheeks
- High palate
- Hyperinsulinemia
- Increased adipose tissue around the neck
- Insulin resistance
- LipoatrophyDiagnostic criterion
- Loss of subcutaneous adipose tissue in limbs
- MicrognathiaDiagnostic criterion
- Narrow nose
- Thin skin
Common30–79%
22- Abnormally large globe
- Abnormal tongue morphology
- Acanthosis nigricans
- Acroosteolysis of distal phalanges (feet)Diagnostic criterion
- Alopecia
- Delayed cranial suture closureDiagnostic criterion
- Dental crowding
- Facial shape deformation
- Glucose intolerance
- Hypercholesterolemia
- Hypertriglyceridemia
- Hypoplasia of teeth
- Hypoplastic fingernail
- Increased circulating free fatty acid level
- Increased intraabdominal fat
- Increased subcutaneous truncal adipose tissue
- Insulin-resistant diabetes mellitus
- Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)
- Osteolytic defects of the distal phalanges of the handDiagnostic criterion
- Postnatal growth retardation
- Short claviclesDiagnostic criterion
- Sparse hair
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes reported in subtypes
Orphanet records these genes on 2 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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