Overview
Acrocapitofemoral dysplasia is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Brachydactyly
Always present (100%)HP:0001156
Delayed ossification of carpal bones
Always present (100%)HP:0001216
Hypoplastic femoral neck
Always present (100%)HP:0100864
Short limbs
Always present (100%)HP:0009826
Short middle phalanx of finger
Always present (100%)HP:0005819
Short nails
Always present (100%)HP:0001799
Single interphalangeal crease of fifth finger
Always present (100%)HP:0006216
Abnormality of the femoral neck
Very frequent (80-99%)HP:0003367
Cone-shaped epiphyses
Very frequent (80-99%)HP:0010579
Coxa vara
Very frequent (80-99%)HP:0002812
Decreased body height
Very frequent (80-99%)HP:0004322
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Hypoplastic hands
Very frequent (80-99%)HP:0004279
Skeletal dysplasia
Very frequent (80-99%)HP:0002652
Cone-shaped metacarpal epiphyses
Frequent (30-79%)HP:0006059
Cupped ribs
Frequent (30-79%)HP:0000887
Flared iliac wings
Frequent (30-79%)HP:0002869
Genua vara
Frequent (30-79%)HP:0002970
Increased lumbar lordosis
Frequent (30-79%)HP:0002938
Ovoid vertebral bodies
Frequent (30-79%)HP:0003300
Prominent swayback
Frequent (30-79%)HP:0003307
Radial bowing
Frequent (30-79%)HP:0002986
Small nail
Frequent (30-79%)HP:0001792
Wide fingernails
Frequent (30-79%)HP:0001821
Enlarged humeral head
Occasional (5-29%)HP:6000884
Large head
Occasional (5-29%)HP:0000256
Low chest circumference
Occasional (5-29%)HP:0000774
Pectus carinatum
Occasional (5-29%)HP:0000768
Pectus excavatum
Occasional (5-29%)HP:0000767
Scoliosis
Occasional (5-29%)HP:0002650
Quick Facts
- SNOMED CT
- 720416007
- UMLS CUI
- C1843096
- Fully Specified Name
- Acrocapitofemoral dysplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.