Overview
Trisomy 1q 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.
Flat nasal bridge
Very frequent (80-99%)HP:0005280
Increased nasal width
Very frequent (80-99%)HP:0000445
Low-set ears
Very frequent (80-99%)HP:0000369
Absence of eyeballs
Frequent (30-79%)HP:0000528
Arachnodactyly
Frequent (30-79%)HP:0001166
Cystic hygroma of the neck
Frequent (30-79%)HP:0000476
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Frontal protuberance
Frequent (30-79%)HP:0002007
Increased amniotic fluid index
Frequent (30-79%)HP:0001561
Increased nuchal translucency
Frequent (30-79%)HP:0010880
Long foot
Frequent (30-79%)HP:0001833
Multicystic kidney dysplasia
Frequent (30-79%)HP:0000003
Narrow mouth
Frequent (30-79%)HP:0000160
Proximal interphalangeal finger joint contractures
Frequent (30-79%)HP:0100490
Retromicrognathia
Frequent (30-79%)HP:0000308
Absence of corpus callosum
Occasional (5-29%)HP:0001274
Absent anus
Occasional (5-29%)HP:0002023
Ambiguous external genitalia
Occasional (5-29%)HP:0000062
Aplasia/Hypoplasia of the nails
Occasional (5-29%)HP:0008386
Cleft of palate
Occasional (5-29%)HP:0000175
Congenital megaureter
Occasional (5-29%)HP:0008676
Cryptorchidism
Occasional (5-29%)HP:0000028
Diaphragmatic hernia
Occasional (5-29%)HP:0000776
Down-slanting palpebral fissure
Occasional (5-29%)HP:0000494
Ear anomalies
Occasional (5-29%)HP:0000356
Hydronephrosis
Occasional (5-29%)HP:0000126
Hydrops fetalis
Occasional (5-29%)HP:0001789
Hypoplastic toenails
Occasional (5-29%)HP:0001800
Increased distance between eyes
Occasional (5-29%)HP:0000316
Large head
Occasional (5-29%)HP:0000256
Quick Facts
- SNOMED CT
- 768927001
- UMLS CUI
- C4708596
- Fully Specified Name
- Trisomy 1q 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.