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Rubinstein-Taybi syndrome

disorder
SNOMED 45582004CUI C0035934

Overview

By MedlinePlus, National Library of Medicine

NIH: National Institute of Child Health and Human Development Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Absence of corpus callosum
Always present (100%)HP:0001274
Broad distal phalanx of finger
Always present (100%)HP:0009836
Bulging forehead
Always present (100%)HP:0011220
Cleft of palate
Always present (100%)HP:0000175
Cryptorchidism, bilateral
Always present (100%)HP:0008689
Decreased volume of upper lip
Always present (100%)HP:0000219
Deviated nasal septum
Always present (100%)HP:0004411
Flat philtrum
Always present (100%)HP:0000319
Gastroesophageal reflux disease
Always present (100%)HP:0002020
Growth failure
Always present (100%)HP:0001510
Hemangioma of the liver
Always present (100%)HP:0031207
Hirsute forehead
Always present (100%)HP:0011335
Hydronephrosis
Always present (100%)HP:0000126
Hypoplasia of columella
Always present (100%)HP:0002000
Incoordination
Always present (100%)HP:0002311
Increased facial hair growth
Always present (100%)HP:0002219
Increased length of eyelashes
Always present (100%)HP:0000527
Increased vertical thickness of eyebrow
Always present (100%)HP:0011229
Misalignment of upper and lower dental arches
Always present (100%)HP:0000689
Mitral valve prolapse
Always present (100%)HP:0001634
Muscular hypotonia
Always present (100%)HP:0001252
Narrow mouth
Always present (100%)HP:0000160
Narrow palate
Always present (100%)HP:0000189
Narrow, high-arched roof of mouth
Always present (100%)HP:0002705
Respiratory infection
Always present (100%)HP:0011947
Rounded columella
Always present (100%)HP:0009765
Simple ear
Always present (100%)HP:0020206
Small upper jaw
Always present (100%)HP:0000327
Split spine
Always present (100%)HP:0002414
Syndactyly
Always present (100%)HP:0001159

Related Conditions

Port-wine stain in Rubinstein-Taybi syndrome(child)
Multiple malformation syndrome, small stature, without skeletal dysplasia(parent)
Hereditary neoplastic syndrome(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
45582004
UMLS CUI
C0035934
Fully Specified Name
Rubinstein-Taybi 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.