Overview
4p partial trisomy 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 antihelix morphology
Very frequent (80-99%)HP:0009738
Abnormal distribution of hair
Very frequent (80-99%)HP:0010720
Abnormal palate morphology
Very frequent (80-99%)HP:0000174
Abnormality of chromosome segregation
Very frequent (80-99%)HP:0002916
Cognitive deficits
Very frequent (80-99%)HP:0100543
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Dental anomalies
Very frequent (80-99%)HP:0000164
Flat nasal bridge
Very frequent (80-99%)HP:0005280
Flat philtrum
Very frequent (80-99%)HP:0000319
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Large pinnae
Very frequent (80-99%)HP:0000400
Low anterior hairline
Very frequent (80-99%)HP:0000294
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Rotting teeth
Very frequent (80-99%)HP:0000670
Round, full face
Very frequent (80-99%)HP:0000311
Short neck
Very frequent (80-99%)HP:0000470
Thick eyebrow
Very frequent (80-99%)HP:0000574
Wide-spaced nipples
Very frequent (80-99%)HP:0006610
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Cryptorchidism
Frequent (30-79%)HP:0000028
Proximal interphalangeal finger joint contractures
Frequent (30-79%)HP:0100490
Retarded ossification
Frequent (30-79%)HP:0002750
Squint
Frequent (30-79%)HP:0000486
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Blepharophimosis
Occasional (5-29%)HP:0000581
Dysplastic radii
Occasional (5-29%)HP:0006433
Hypospadias
Occasional (5-29%)HP:0000047
Preaxial hand polydactyly
Occasional (5-29%)HP:0001177
Quick Facts
- SNOMED CT
- 49024004
- UMLS CUI
- C0265405
- Fully Specified Name
- 4p partial trisomy 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.