Overview
Ring chromosome 2 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.
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Growth delay as children
Very frequent (80-99%)HP:0008897
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Bilateral fifth digit clinodactyly
Frequent (30-79%)HP:0004209
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Decreased amniotic fluid index
Frequent (30-79%)HP:0001562
Decreased projection of mandible
Frequent (30-79%)HP:0000347
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased length of philtrum
Frequent (30-79%)HP:0000343
Low-set ears
Frequent (30-79%)HP:0000369
Mental and motor retardation
Frequent (30-79%)HP:0001263
Narrow forehead
Frequent (30-79%)HP:0000341
Short neck
Frequent (30-79%)HP:0000470
Thick, flared eyebrows
Frequent (30-79%)HP:0002553
Abnormality of the feet
Occasional (5-29%)HP:0001760
Autism spectrum disorder
Occasional (5-29%)HP:0000729
Brachydactyly
Occasional (5-29%)HP:0001156
Cafe-au-lait spots
Occasional (5-29%)HP:0000957
Cryptorchidism
Occasional (5-29%)HP:0000028
Heart septal defect
Occasional (5-29%)HP:0001671
Loose-jointedness
Occasional (5-29%)HP:0001382
PDA
Occasional (5-29%)HP:0001643
Scoliosis
Occasional (5-29%)HP:0002650
Quick Facts
- SNOMED CT
- 765485000
- UMLS CUI
- C4707448
- Fully Specified Name
- Ring chromosome 2 syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.