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Ring chromosome 3

disorder
SNOMED 765486004CUI C4707449

Overview

Ring chromosome 3 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
Brachydactyly
Frequent (30-79%)HP:0001156
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Clinodactyly
Frequent (30-79%)HP:0030084
Decreased body height
Frequent (30-79%)HP:0004322
Downturned corners of mouth
Frequent (30-79%)HP:0002714
Dysplastic ears
Frequent (30-79%)HP:0000377
Increased length of philtrum
Frequent (30-79%)HP:0000343
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Inverted triangular face
Frequent (30-79%)HP:0000325
Palpebronasal fold
Frequent (30-79%)HP:0000286
Poor school performance
Frequent (30-79%)HP:0001249
Retromicrognathia
Frequent (30-79%)HP:0000308
Eyelid ptosis
Occasional (5-29%)HP:0000508
Failure to thrive in first year of life
Occasional (5-29%)HP:0001531
Feeding difficulties in infancy
Occasional (5-29%)HP:0008872
High arched palate
Occasional (5-29%)HP:0000218
Hypospadias
Occasional (5-29%)HP:0000047
Muscular hypotonia
Occasional (5-29%)HP:0001252
Thick eyebrow
Occasional (5-29%)HP:0000574

Quick Facts

SNOMED CT
765486004
UMLS CUI
C4707449
Fully Specified Name
Ring chromosome 3 syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
21
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.

Ring chromosome 3 — Symptoms, Testing & Specialists | Ltrl | Healos