Overview
Cryptomicrotia brachydactyly syndrome 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.
Abnormal dermatoglyphics
Very frequent (80-99%)HP:0007477
Distal phalangeal hypoplasia
Very frequent (80-99%)HP:0009882
Progressive brachydactyly of middle and distal phalanges
Very frequent (80-99%)HP:0005872
Freckling
Frequent (30-79%)HP:0001480
Hypoplastic toenails
Frequent (30-79%)HP:0001800
Increased intercanthal distance
Frequent (30-79%)HP:0000506
Scrotal cleft
Frequent (30-79%)HP:0000048
Related Conditions
Autosomal dominant hereditary disorder(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Brachymesophalangia(parent)
Congenital abnormality of external ear(parent)
Auditory system hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 725096002
- UMLS CUI
- C1852454
- Fully Specified Name
- Cryptomicrotia brachydactyly syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 7
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.