acrodysostosis
Findings
No curated finding names acrodysostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.
Definition from the Mondo Disease Ontology (MONDO:0019797), read 2026-09-29. CC BY 4.0.
Features
53 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 metacarpal morphologyHPOHP:0005916
- Very frequent (80% to 99% of cases)
- Abnormal nail morphologyHPOHP:0001597
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Accelerated skeletal maturationHPOHP:0005616
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Cone-shaped epiphysisHPOHP:0010579
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Very frequent (80% to 99% of cases)
- Epiphyseal stipplingHPOHP:0010655
- Very frequent (80% to 99% of cases)
- Hypoplasia of the maxillaHPOHP:0000327
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- Very frequent (80% to 99% of cases)
Show the remaining 41
- Open mouthHPOHP:0000194
- Very frequent (80% to 99% of cases)
- Short metacarpalHPOHP:0010049
- Very frequent (80% to 99% of cases)
- Short metatarsalHPOHP:0010743
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Short toeHPOHP:0001831
- Very frequent (80% to 99% of cases)
Genes
2 genes
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.
Where it sits
Other names
3 names
Resolves to: acrodysostosis
- Also called
- acrodysplasiaArkless-Graham syndromeMaroteaux-Malamut syndrome