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Rubinstein-Taybi syndrome

disorder
SNOMED 45582004CUI C0035934

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.

Absence of corpus callosum
Always present (100%)HP:0001274
Angle class 3 malocclusion
Always present (100%)HP:0000689
Broad distal phalanx of finger
Always present (100%)HP:0009836
Bulging forehead
Always present (100%)HP:0011220
Central hypotonia
Always present (100%)HP:0001252
Cleft of palate
Always present (100%)HP:0000175
Columella, short
Always present (100%)HP:0002000
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
Gastro-esophageal reflux
Always present (100%)HP:0002020
Growth deficiency
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
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
Mitral valve prolapse
Always present (100%)HP:0001634
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
Poor weight gain
Always present (100%)HP:0001508
Respiratory infection
Always present (100%)HP:0011947
Retrusion of upper jaw bones
Always present (100%)HP:0000327
Rounded columella
Always present (100%)HP:0009765
Simple ear
Always present (100%)HP:0020206
Split spine
Always present (100%)HP:0002414

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.