mandibuloacral dysplasia with type B lipodystrophy
MONDO:0012074Mondo
Findings
No curated finding names mandibuloacral dysplasia with type B lipodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Death in early adulthood
HPO, annotations 2026-09-02
Features
40 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.
- Brittle hairHPOHP:0002299
- 1 of 1 reported patient · Juvenile onset
- Delayed cranial suture closureHPOHP:0000270
- 1 of 1 reported patient
- Dermal atrophyHPOHP:0004334
- 1 of 1 reported patient · Childhood onset
- Very frequent (80% to 99% of cases)
- Flexion contractureHPOHP:0001371
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- Loss of facial adipose tissueHPOHP:0000292
- 1 of 1 reported patient · Juvenile onset
- Loss of subcutaneous adipose tissue in limbsHPOHP:0003635
- 1 of 1 reported patient · Juvenile onset
- Mottled pigmentationHPOHP:0001070
- 1 of 1 reported patient · Juvenile onset
- Narrow mouthHPOHP:0000160
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Narrow nasal ridgeHPOHP:0000418
- 1 of 1 reported patient
- Progeroid facial appearanceHPOHP:0005328
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Prominent superficial veinsHPOHP:0001015
- 1 of 1 reported patient · Juvenile onset
Show the remaining 28
- Short claviclesHPOHP:0000894
- 1 of 1 reported patient
- Short noseHPOHP:0003196
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Sparse hairHPOHP:0008070
- 1 of 1 reported patient · Juvenile onset
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 1 of 1 reported patient
- Abnormality of the skeletal systemHPOHP:0000924
- Very frequent (80% to 99% of cases)
- Acroosteolysis of distal phalanges (feet)HPOHP:0001870
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ZMPSTE24HGNC:12877
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of