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Char syndrome

disorder
SNOMED 703534001CUI C1868570

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased height of philtrum
Very frequent (80-99%)HP:0000322
Depressed nasal root/bridge
Very frequent (80-99%)HP:0005280
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Eclabium of lower lip
Very frequent (80-99%)HP:0000232
Eyelid ptosis
Very frequent (80-99%)HP:0000508
Hypotrophic malar bone
Very frequent (80-99%)HP:0000272
Increased distance between eyes
Very frequent (80-99%)HP:0000316
PDA
Very frequent (80-99%)HP:0001643
Prominent lips
Very frequent (80-99%)HP:0012471
Retruded nasal dorsum
Very frequent (80-99%)HP:0000457
Triangular shaped mouth
Very frequent (80-99%)HP:0000207
Central hand polydactyly
Frequent (30-79%)HP:0006159
Curvature of little finger
Frequent (30-79%)HP:0004209
Type A3 brachydactyly
Frequent (30-79%)HP:0004220
Accessory nipples
Occasional (5-29%)HP:0002558
Agenesis of permanent teeth
Occasional (5-29%)HP:0006349
Central polydactyly of feet
Occasional (5-29%)HP:0010112
Deafness
Occasional (5-29%)HP:0000365
Delayed loss of deciduous teeth
Occasional (5-29%)HP:0006335
Near sighted
Occasional (5-29%)HP:0000545
Polydactyly of the hand
Occasional (5-29%)HP:0001161
Prominent posterior skull
Occasional (5-29%)HP:0000269
Squint
Occasional (5-29%)HP:0000486
Symphalangism of the 5th finger
Occasional (5-29%)HP:0004218
Syndactyly of feet
Occasional (5-29%)HP:0001770
Trouble sleeping
Occasional (5-29%)HP:0002360
VSD
Occasional (5-29%)HP:0001629
Broad, upturned nose
HP:0000455
Cognitive delay
HP:0001263
Event that disrupts sleep
HP:0025234

Quick Facts

SNOMED CT
703534001
UMLS CUI
C1868570
Fully Specified Name
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits (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.