Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absence of eyeballs
Always present (100%)HP:0000528
Abnormal metacarpal morphology
Very frequent (80-99%)HP:0005916
Abnormality of the arm
Very frequent (80-99%)HP:0002817
Abnormality of the eyebrow
Very frequent (80-99%)HP:0000534
Abnormality of the lower limb
Very frequent (80-99%)HP:0002814
Blepharophimosis
Very frequent (80-99%)HP:0000581
Bulging forehead
Very frequent (80-99%)HP:0011220
Completely missing eyeball
Very frequent (80-99%)HP:0011478
Decreased size of eyeball
Very frequent (80-99%)HP:0000568
Frontal protuberance
Very frequent (80-99%)HP:0002007
Fusion of joints
Very frequent (80-99%)HP:0100240
Fusion of wrist bones
Very frequent (80-99%)HP:0005048
Partial syndactyly
Very frequent (80-99%)HP:0006101
Retrusion of upper jaw bones
Very frequent (80-99%)HP:0000327
Space between great toe and second toe
Very frequent (80-99%)HP:0001852
Syndactyly of feet
Very frequent (80-99%)HP:0001770
4-5 metacarpal synostosis
Frequent (30-79%)HP:0005867
Abnormal vertebral bodies
Frequent (30-79%)HP:0003312
Abnormality of the thumbs
Frequent (30-79%)HP:0001172
Absent fingers
Frequent (30-79%)HP:0009380
Bilateral fifth digit clinodactyly
Frequent (30-79%)HP:0004209
Bilateral single transverse palmar creases
Frequent (30-79%)HP:0007598
Camptodactyly of 2nd-5th fingers
Frequent (30-79%)HP:0001215
Cleft of upper lip
Frequent (30-79%)HP:0000204
Concave bridge of nose
Frequent (30-79%)HP:0005280
Cutaneous 2,3 toe syndactyly
Frequent (30-79%)HP:0005709
Decreased body height
Frequent (30-79%)HP:0004322
Fusion of metatarsals
Frequent (30-79%)HP:0001440
Mental and motor retardation
Frequent (30-79%)HP:0001263
Mental retardation, severe
Frequent (30-79%)HP:0010864
Quick Facts
- SNOMED CT
- 703403003
- UMLS CUI
- C0599973
- Fully Specified Name
- Ophthalmo-acromelic 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.