Acromicric dysplasia
MONDO:0007055Mondo
Findings
No curated finding names Acromicric dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.
Definition from the Mondo Disease Ontology (MONDO:0007055), read 2026-09-29. CC BY 4.0.
Features
22 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 eyebrow morphologyHPOHP:0000534
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Long eyelashesHPOHP:0000527
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- Round faceHPOHP:0000311
- Very frequent (80% to 99% of cases)
- Severe short statureHPOHP:0003510
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Short palmHPOHP:0004279
- Very frequent (80% to 99% of cases)
- Small handHPOHP:0200055
- Very frequent (80% to 99% of cases)
- Bulbous noseHPOHP:0000414
- Frequent (30% to 79% of cases)
- Decreased nerve conduction velocityHPOHP:0000762
- Frequent (30% to 79% of cases)
Show the remaining 10
- Narrow mouthHPOHP:0000160
- Frequent (30% to 79% of cases)
- Thick lower lip vermilionHPOHP:0000179
- Frequent (30% to 79% of cases)
- Abnormal epiphysis morphologyHPOHP:0005930
- Occasional (5% to 29% of cases)
- Abnormal femur morphologyHPOHP:0002823
- Occasional (5% to 29% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Occasional (5% to 29% of cases)
- Fifth metacarpal with ulnar notchHPOHP:0005900
- Occasional (5% to 29% 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
- A kind of