Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Tracheal cartilaginous sleeve
Always present (100%)HP:0005347
Broad thumbs
Very frequent (80-99%)HP:0011304
Cheekbone underdevelopment
Very frequent (80-99%)HP:0010669
Eyelid ptosis
Very frequent (80-99%)HP:0000508
Bilateral fifth digit clinodactyly
Frequent (30-79%)HP:0004209
Brachydactyly
Frequent (30-79%)HP:0001156
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
High forehead
Frequent (30-79%)HP:0000348
Increased distance between eyes
Frequent (30-79%)HP:0000316
Tall shaped head
Frequent (30-79%)HP:0000262
3-4 toe cutaneous syndactyly
Occasional (5-29%)HP:6000648
Cloverleaf skull shape
Occasional (5-29%)HP:0002676
Decreased body height
Occasional (5-29%)HP:0004322
Decreased height of philtrum
Occasional (5-29%)HP:0000322
Developmental dysplasia of the hip
Occasional (5-29%)HP:0001385
Flat facial shape
Occasional (5-29%)HP:0012368
Fusion of wrist bones
Occasional (5-29%)HP:0005048
High arched palate
Occasional (5-29%)HP:0000218
Mandibular hyperplasia
Occasional (5-29%)HP:0000303
Prominent swayback
Occasional (5-29%)HP:0003307
Short neck
Occasional (5-29%)HP:0000470
Slack jawed appearance
Occasional (5-29%)HP:0000194
Unbalanced face
Occasional (5-29%)HP:0000324
Brachyturricephaly
HP:0000244
Broad big toe
HP:0010055
Bronchomalacia
HP:0002780
Chiari malformation
HP:0002308
Choanal atresia
HP:0000453
Coanal stenosis
HP:0000452
Concave bridge of nose
HP:0005280
Quick Facts
- SNOMED CT
- 70410008
- UMLS CUI
- C0220658
- Fully Specified Name
- Acrocephalosyndactyly type V (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.