Rubinstein-taybi syndrome 1

Preferred Label : Rubinstein-taybi syndrome 1;

Symbol : RSTS1;

CISMeF acronym : RSTS; RSTS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Broad thumbs and great toes, characteristic facies, and mental retardation; RSTS; Rubinstein syndrome; Broad thumb-hallux syndrome;

Description : Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006). Floating-Harbor syndrome (136140), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (611421), a coactivator for CREBBP. - Genetic Heterogeneity of Rubinstein-Taybi Syndrome Rubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2; 613684) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (602700) on chromosome 22q13 (Bartsch et al., 2010). See also chromosome 16p13.3 deletion syndrome (610543), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the CREB-binding protein gene (CREBBP, 600140.0001);

Neoplasia : Increased risk of tumor formation, especially of the head; Increased risk of leukemia;

Laboratory abnormalities : A small minority of patients have translocations and inversions involving 16p13.3; Ten percent of cases are secondary to submicroscopic deletions of 16p13.3 detectable by FISH;

Prefixed ID : #180849;

Details

Origin ID

180849;

UMLS CUI

C4551859;

Automatic exact mappings (from CISMeF team)
- CREBBP wt Allele [NCIt concept]
- Rubinstein-Taybi syndrome due to CREBBP mutations [ORDO Disease]
Currated CISMeF NLP mapping
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category]
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category (who)]
- RUBENSTEIN-TAYBI SYNDROME [WHO-ART Included Term]
- Rubinstein-Taybi Syndrome [NCIt concept]
- Rubinstein-Taybi dwarfism [PASCAL descriptor]
- Rubinstein-Taybi syndrome [Disease (Nov.)]
- Rubinstein-Taybi syndrome [DO Concept]
- Rubinstein-Taybi syndrome [PASCAL descriptor]
- Rubinstein-Taybi syndrome [ICD-11 More detail]
- Rubinstein-Taybi syndrome [MeSH concept]
- Rubinstein-Taybi syndrome [ORDO Disease]
- Rubinstein-Taybi syndrome [MedDRA Preferred Term]
- Rubinstein-Taybi syndrome (disorder) [SNOMED CT concept]
- rubinstein-taybi syndrome [MeSH Descriptor]
- rubinstein-taybi syndrome [SNOMED Notion]
DO Cross reference
- Rubinstein-Taybi syndrome [DO Concept]
Genes related to phenotype
- Creb-binding protein [OMIM gene]
HPO term(s)
- Abnormal cornea morphology [HPO term]
- Abnormal fear/anxiety-related behavior [HPO term]
- Abnormal number of teeth [HPO term]
- Abnormality of cardiac conduction [HPO term]
- Abnormality of refraction [HPO term]
- Abnormality of the cervical spine [HPO term]
- Abnormality of the kidney [HPO term]
- Abnormality of the nasal septum [HPO term]
- Abnormality of the pinna [HPO term]
- Abnormality of the urinary system [HPO term]
- Aganglionic megacolon [HPO term]
- Agenesis of corpus callosum [HPO term]
- Agoraphobia [HPO term]
- Arrhythmia [HPO term]
- Atrial septal defect [HPO term]
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Avascular necrosis of the capital femoral epiphysis [HPO term]
- Bifid uterus [HPO term]
- Bimanual synkinesia [HPO term]
- Broad finger [HPO term]
- Broad hallux [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Cafe-au-lait spot [HPO term]
- Capillary hemangioma [HPO term]
- Cataract [HPO term]
- Chorioretinal dystrophy [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coloboma [HPO term]
- Constipation [HPO term]
- Convex nasal ridge [HPO term]
- Cryptorchidism [HPO term]
- Deeply set eye [HPO term]
- Delayed cranial suture closure [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Dental malocclusion [HPO term]
- Deviated nasal septum [HPO term]
- Dislocated radial head [HPO term]
- Downslanted palpebral fissures [HPO term]
- Duane anomaly [HPO term]
- Duplication of phalanx of hallux [HPO term]
- EEG abnormality [HPO term]
- Enamel hypoplasia [HPO term]
- Enophthalmos [HPO term]
- Epicanthus [HPO term]
- Facial grimacing [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flared iliac wing [HPO term]
- Flexion contracture [HPO term]
- Frontal bossing [HPO term]
- Frontal upsweep of hair [HPO term]
- Generalized hypotonia [HPO term]
- Glaucoma [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Heterogeneous [HPO term]
- High axial triradius [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Highly arched eyebrow [HPO term]
- Highly arched eyebrows [HPO term]
- Hirsutism [HPO term]
- Hyperactivity [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Hypoplastic iliac wing [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Impulsivity [HPO term]
- Increased risk of leukemia [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Joint laxity [HPO term]
- Keloids [HPO term]
- Large foramen magnum [HPO term]
- Laryngomalacia [HPO term]
- Leukemia [HPO term]
- Long eyelashes [HPO term]
- Low anterior hairline [HPO term]
- Low hanging columella [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Narrow palate [HPO term]
- Nasolacrimal duct obstruction [HPO term]
- Neoplasm [HPO term]
- Obstructive sleep apnea [HPO term]
- Papillary cystadenoma of the epididymis [HPO term]
- Parietal foramina [HPO term]
- Patellar dislocation [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Phonophobia [HPO term]
- Plantar crease between first and second toes [HPO term]
- Polydactyly [HPO term]
- Polyhydramnios [HPO term]
- Poor coordination [HPO term]
- Poor weight gain [HPO term]
- Postnatal growth retardation [HPO term]
- Premature thelarche [HPO term]
- Prominent fingertip pads [HPO term]
- Proptosis [HPO term]
- Ptosis [HPO term]
- Radial deviation of thumb terminal phalanx [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Respiratory distress [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Self-mutilation [HPO term]
- Shawl scrotum [HPO term]
- Short attention span [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Small, flared iliac wings [HPO term]
- Speech delay [HPO term]
- Speech difficulties [HPO term]
- Spina bifida occulta [HPO term]
- Sporadic [HPO term]
- Stereotypical motor behaviors [HPO term]
- Strabismus [HPO term]
- Syndactyly [HPO term]
- Talon cusp [HPO term]
- Tethered cord [HPO term]
- Thick eyebrow [HPO term]
- Truncal obesity [HPO term]
- Unsteady gait [HPO term]
- Variable expressivity [HPO term]
- Vascular ring [HPO term]
- Ventricular septal defect [HPO term]
- Wide anterior fontanel [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Rubinstein-Taybi syndrome [ORDO Disease]
- Rubinstein-Taybi syndrome due to CREBBP mutations [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital malformation syndromes predominantly involving limbs [ICD-10 Sub-category (who)]
- RUBENSTEIN-TAYBI SYNDROME [WHO-ART Included Term]
- Rubinstein-Taybi Syndrome [NCIt concept]
- Rubinstein-Taybi Syndrome Type 1 [NCIt concept]
- Rubinstein-Taybi syndrome [MedDRA Preferred Term]
- Rubinstein-Taybi syndrome [ORDO Disease]
- Rubinstein-Taybi syndrome [MeSH concept]
- Rubinstein-Taybi syndrome [DO Concept]
- Rubinstein-Taybi syndrome [Disease (Nov.)]
- Rubinstein-Taybi syndrome (disorder) [SNOMED CT concept]
- rubinstein-taybi syndrome [SNOMED Notion]
- rubinstein-taybi syndrome [MeSH Descriptor]
Validated automatic mappings to BTNT
- Rubinstein-Taybi Syndrome Type 1 [NCIt concept]

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