mandibuloacral dysplasia
MONDO:0016584Mondo
Findings
No curated finding names mandibuloacral dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0016584), read 2026-09-29. CC BY 4.0.
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal skin pigmentationHPOHP:0001000
- Very frequent (80% to 99% of cases)
- Contractures of the large jointsHPOHP:0005781
- Very frequent (80% to 99% of cases)
- Full cheeksHPOHP:0000293
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- Very frequent (80% to 99% of cases)
- HyperinsulinemiaHPOHP:0000842
- Very frequent (80% to 99% of cases)
- Increased adipose tissue around the neckHPOHP:0000468
- Very frequent (80% to 99% of cases)
- Insulin resistanceHPOHP:0000855
- Very frequent (80% to 99% of cases)
- LipoatrophyHPOHP:0100578
- Very frequent (80% to 99% of cases)
- Loss of subcutaneous adipose tissue in limbsHPOHP:0003635
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Narrow noseHPOHP:0000460
- Very frequent (80% to 99% of cases)
- Thin skinHPOHP:0000963
- Very frequent (80% to 99% of cases)
Show the remaining 22
- Abnormal tongue morphologyHPOHP:0030809
- Frequent (30% to 79% of cases)
- Abnormally large globeHPOHP:0001090
- Frequent (30% to 79% of cases)
- Acanthosis nigricansHPOHP:0000956
- Frequent (30% to 79% of cases)
- Acroosteolysis of distal phalanges (feet)HPOHP:0001870
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Frequent (30% to 79% of cases)
- Delayed cranial suture closureHPOHP:0000270
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: mandibuloacral dysplasia
- Also called
- MADmandibuloacral dysplasia with lipodystrophy