mandibuloacral dysplasia with type A lipodystrophy
Findings
No curated finding names mandibuloacral dysplasia with type A lipodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.
Definition from the Mondo Disease Ontology (MONDO:0009557), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
55 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.
- Acanthosis nigricansHPOHP:0000956
- 10 of 10 reported patients
- Acroosteolysis of distal phalanges (feet)HPOHP:0001870
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- CalcinosisHPOHP:0003761
- 1 of 1 reported patient
- CamptodactylyHPOHP:0012385
- 1 of 1 reported patient
- Convex nasal ridgeHPOHP:0000444
- 1 of 1 reported patient
- Coxa valgaHPO
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.
- LMNAHGNC:6636
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of