← Back to Conditions

15q overgrowth syndrome

disorder
SNOMED 771477003CUI C4749920

Overview

15q overgrowth 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.

Abnormality of the auricle
Very frequent (80-99%)HP:0000356
Arachnodactyly
Very frequent (80-99%)HP:0001166
Camptodactyly of index finger
Very frequent (80-99%)HP:0009540
Coarse face
Very frequent (80-99%)HP:0000280
Contracture of the proximal interphalangeal joint of the 3rd finger
Very frequent (80-99%)HP:0009471
Craniosyostosis
Very frequent (80-99%)HP:0001363
Decreased projection of lower jaw
Very frequent (80-99%)HP:0000347
Distortion of face
Very frequent (80-99%)HP:0001999
Dolichostenomelia
Very frequent (80-99%)HP:0001519
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Generalised overgrowth
Very frequent (80-99%)HP:0001548
High arched palate
Very frequent (80-99%)HP:0000218
Horseshoe kidney
Very frequent (80-99%)HP:0000085
Hydronephrosis
Very frequent (80-99%)HP:0000126
Hypotonia, in neonatal onset
Very frequent (80-99%)HP:0001319
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
Joint instability
Very frequent (80-99%)HP:0001382
Kidney malformation
Very frequent (80-99%)HP:0012210
Low-set ears
Very frequent (80-99%)HP:0000369
Narrow, high-arched roof of mouth
Very frequent (80-99%)HP:0002705
Neurodevelopmental delay
Very frequent (80-99%)HP:0012758
Night blindness, congenital
Very frequent (80-99%)HP:0007642
No development of motor milestones
Very frequent (80-99%)HP:0001270
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Retrognathia
Very frequent (80-99%)HP:0000278
Retromicrognathia
Very frequent (80-99%)HP:0000308
Small for gestational age infant
Very frequent (80-99%)HP:0001511
Ureterovesical stenosis
Very frequent (80-99%)HP:0008714
Abnormal finger flexion crease
Occasional (5-29%)HP:0006143

Related Conditions

Congenital anomaly of the kidney(parent)
Intellectual disability(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Multiple malformation syndrome with early overgrowth(parent)
Partial duplication of long arm of chromosome 15(parent)

Quick Facts

SNOMED CT
771477003
UMLS CUI
C4749920
Fully Specified Name
15q overgrowth 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.