acrocapitofemoral dysplasia
Findings
No curated finding names acrocapitofemoral dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
Definition from the Mondo Disease Ontology (MONDO:0011907), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
52 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.
- BrachydactylyHPOHP:0001156
- 6 of 6 reported patients
- Broad nailHPOHP:0001821
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Delayed ossification of carpal bonesHPOHP:0001216
- 5 of 5 reported patients
- Limb undergrowthHPOHP:0009826
- 6 of 6 reported patients
- Short femoral neckHPOHP:0100864
- 6 of 6 reported patients
- Short middle phalanx of fingerHPOHP:0005819
- 6 of 6 reported patients
- Short nail
Show the remaining 40
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- Short palmHPOHP:0004279
- Very frequent (80% to 99% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
- Lumbar hyperlordosisHPOHP:0002938
- 4 of 6 reported patients
- Cone-shaped metacarpal epiphysesHPOHP:0006059
- Frequent (30% to 79% of cases)
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.
- IHHHGNC:5956
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2024