Overview
Penta X 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.
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Bilateral fifth digit clinodactyly
Frequent (30-79%)HP:0004209
Decreased body height
Frequent (30-79%)HP:0004322
Decreased projection of lower jaw
Frequent (30-79%)HP:0000347
Decreased size of cranium
Frequent (30-79%)HP:0000252
Disproportionately small hands
Frequent (30-79%)HP:0200055
Flattening of head
Frequent (30-79%)HP:0001357
Fused forearm bones
Frequent (30-79%)HP:0002974
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased width of bridge of nose
Frequent (30-79%)HP:0000431
Mental-retardation
Frequent (30-79%)HP:0001249
Mongoloid slant
Frequent (30-79%)HP:0000582
Proximal interphalangeal finger joint contractures
Frequent (30-79%)HP:0100490
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Small feet
Frequent (30-79%)HP:0001773
Squint
Frequent (30-79%)HP:0000486
Abnormal formation of the hip
Occasional (5-29%)HP:0001385
Abnormality of immune system physiology
Occasional (5-29%)HP:0010978
Delayed puberty
Occasional (5-29%)HP:0000823
Heart septal defect
Occasional (5-29%)HP:0001671
PDA
Occasional (5-29%)HP:0001643
Quick Facts
- SNOMED CT
- 43248007
- UMLS CUI
- C0265497
- Fully Specified Name
- Penta X syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.