Overview
Distal arthrogryposis type 8 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.
Camptodactyly
Always present (100%)HP:0012385
Short neck
Always present (100%)HP:0000470
Decreased body height
Very frequent (80-99%)HP:0004322
Pterygium colli
Very frequent (80-99%)HP:0000465
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Congenitally fused vertebrae
Frequent (30-79%)HP:0002948
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Elbow contracture
Frequent (30-79%)HP:0034391
Eye drop
Frequent (30-79%)HP:0000508
Flexion contractures of hips
Frequent (30-79%)HP:0003273
Inability to straighten knee
Frequent (30-79%)HP:0006380
Long nasal bridge
Frequent (30-79%)HP:0033142
Low-set ears
Frequent (30-79%)HP:0000369
Popliteal pterygium
Frequent (30-79%)HP:0009756
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Cervical spinal canal stenosis
Occasional (5-29%)HP:0008445
Cleft of palate
Occasional (5-29%)HP:0000175
Deformity of the skull
Occasional (5-29%)HP:0001363
Inguinal hernia
Occasional (5-29%)HP:0000023
Spondylolisthesis
Occasional (5-29%)HP:0003302
VSD
Occasional (5-29%)HP:0001629
Webbed elbow
Occasional (5-29%)HP:0009760
Webbed fingers
Occasional (5-29%)HP:0010554
Barrel chest
Very rare (1-4%)HP:0001552
Deafness
Very rare (1-4%)HP:0000365
Decreased size of cranium
Very rare (1-4%)HP:0000252
Pectus carinatum
Very rare (1-4%)HP:0000768
Arthrogryposis multiplex
HP:0002804
Fixed flexion at the elbow joint
HP:0002987
Fused wrist bones
HP:0009702
Quick Facts
- SNOMED CT
- 771269000
- UMLS CUI
- C1867440
- Fully Specified Name
- Autosomal dominant multiple pterygium syndrome (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.