Overview
Distal monosomy 3p 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.
Broad flat nasal bridge
Always present (100%)HP:0000431
Bulbous nose
Always present (100%)HP:0000414
Concave bridge of nose
Always present (100%)HP:0005280
Decreased volume of upper lip
Always present (100%)HP:0000219
Dull intelligence
Always present (100%)HP:0001249
Gastroesophageal reflux disease
Always present (100%)HP:0002020
Growth delay as children
Always present (100%)HP:0008897
Growth failure
Always present (100%)HP:0001510
Overfolded helix
Always present (100%)HP:0000396
Overlapping toes
Always present (100%)HP:0001845
Psychomotor development deficiency
Always present (100%)HP:0001263
Cognitive deficits
Very frequent (80-99%)HP:0100543
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased projection of lower jaw
Very frequent (80-99%)HP:0000347
Eye drop
Very frequent (80-99%)HP:0000508
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Cleft of palate
Frequent (30-79%)HP:0000175
Cryptorchidism
Frequent (30-79%)HP:0000028
Deafness
Frequent (30-79%)HP:0000365
Decreased size of cranium
Frequent (30-79%)HP:0000252
Electroencephalogram abnormal
Frequent (30-79%)HP:0002353
High arched palate
Frequent (30-79%)HP:0000218
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Low birth weight
Frequent (30-79%)HP:0001518
Low-set ears
Frequent (30-79%)HP:0000369
Muscular hypotonia
Frequent (30-79%)HP:0001252
Narrow head shape
Frequent (30-79%)HP:0000268
Palpebronasal fold
Frequent (30-79%)HP:0000286
Related Conditions
Quick Facts
- SNOMED CT
- 763528002
- UMLS CUI
- C4706503
- Fully Specified Name
- Distal monosomy 3p 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.