Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of the eyebrow
Very frequent (80-99%)HP:0000534
Brachydactyly
Very frequent (80-99%)HP:0001156
Disproportionately small hands
Very frequent (80-99%)HP:0200055
Increased length of eyelashes
Very frequent (80-99%)HP:0000527
Round facies
Very frequent (80-99%)HP:0000311
Short hands
Very frequent (80-99%)HP:0004279
Small nose
Very frequent (80-99%)HP:0003196
Bulbous nose
Frequent (30-79%)HP:0000414
Decreased nerve conduction velocity
Frequent (30-79%)HP:0000762
Narrow mouth
Frequent (30-79%)HP:0000160
Abnormality of the thighbone
Occasional (5-29%)HP:0002823
Anomaly of the epiphyses
Occasional (5-29%)HP:0005930
Bullet vertebral body
Occasional (5-29%)HP:0003300
Husky voice
Occasional (5-29%)HP:0001609
Stiff joint
Occasional (5-29%)HP:0001387
Cone-shaped epiphyses
HP:0010579
Delayed skeletal development
HP:0002750
Depressed philtrum
HP:0002002
Diffusely thickened skin
HP:0001072
Fifth metacarpal notched on ulnar side
HP:0005900
Increased height of lower lip vermilion
HP:0000179
Increased length of philtrum
HP:0000343
Nostrils anteverted
HP:0000463
Phalangeal hypoplasia
HP:0009803
Short stature, severe
HP:0003510
Shortened long bones of hand
HP:0010049
shortened long tubular bones
HP:0003026
Small feet
HP:0001773
Related Conditions
Acromesomelic dysplasia syndrome(parent)
Autosomal dominant hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Small stature(parent)
Longitudinal deficiency of foot(parent)
Congenital undergrowth of partial lower limb(parent)
Longitudinal deficiency of part of upper limb(parent)
Developmental hereditary disorder(parent)
Congenital deformity of hand(parent)
Quick Facts
- SNOMED CT
- 254090007
- UMLS CUI
- C0265287
- Fully Specified Name
- Acromicric dysplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.