🇫🇷 Fiche Orphanet officielle

Syndrome de Rubinstein-Taybi dû à des mutations de CREBBP

ORPHA:353277Sous-type d'une pathologieCIM-10 : Q87.2OMIM : 180849

🩺 Symptômes & manifestations cliniques

122 phénotypes HPO annotés Orphanet

🔴 Très fréquent (99-80%) — 16

High palate
Facial grimacing
Hypertelorism
Micrognathia
Low-set ears
Downslanted palpebral fissures
Delayed speech and language development
Intellectual disability
Abnormal facial shape
Highly arched eyebrow
Prominent nasal septum
Widened distal phalanges
Postnatal growth retardation
Broad hallux
Broad thumb
Neurodevelopmental delay

🟠 Fréquent (79-30%) — 32

Cryptorchidism
Abnormality of the kidney
Abnormality of the genitourinary system
Narrow palate
Convex nasal ridge
Abnormality of the eye
Ptosis
Atypical behavior
Emotional lability
Compulsive behaviors
Abnormal repetitive mannerisms
Agoraphobia
Failure to thrive
Obesity
Abnormal heart morphology
Constipation
Recurrent respiratory infections
Obstructive sleep apnea
Short stature
Social and occupational deterioration
Laryngeal cartilage malformation
Feeding difficulties in infancy
Low hanging columella
Abnormal proximal phalanx morphology of the hand
Broad distal phalanx of finger
Talon cusp
Reduced social responsiveness
Panic attack
Abnormal cardiovascular system morphology
Impulsivity
Abnormal fear/anxiety-related behavior
Brain imaging abnormality

🟡 Occasionnel / autres (74) ↓

Syndactyly(Occasionel (29-5%))
Adducted thumb(Occasionel (29-5%))
Hypotonia(Occasionel (29-5%))
Abnormal corpus callosum morphology(Occasionel (29-5%))
Absent speech(Occasionel (29-5%))
Joint hypermobility(Occasionel (29-5%))
Hip dysplasia(Occasionel (29-5%))
Intrauterine growth retardation(Occasionel (29-5%))
Polyhydramnios(Occasionel (29-5%))
Ventricular septal defect(Occasionel (29-5%))
Atrial septal defect(Occasionel (29-5%))
Patent ductus arteriosus(Occasionel (29-5%))
Patent foramen ovale(Occasionel (29-5%))
Gastroesophageal reflux(Occasionel (29-5%))
Pneumonia(Occasionel (29-5%))
Chiari malformation(Occasionel (29-5%))
Aspiration(Occasionel (29-5%))
Meningioma(Occasionel (29-5%))
Patellar dislocation(Occasionel (29-5%))
Abnormality of the cervical spine(Occasionel (29-5%))
Avascular necrosis of the capital femoral epiphysis(Occasionel (29-5%))
Chiari type I malformation(Occasionel (29-5%))
Deviation of the hallux(Occasionel (29-5%))
Polydactyly(Occasionel (29-5%))
Abnormality of the curvature of the vertebral column(Occasionel (29-5%))
Supernumerary tooth(Occasionel (29-5%))
Nasogastric tube feeding in infancy(Occasionel (29-5%))
Delayed myelination(Occasionel (29-5%))
Abnormality of lateral ventricle(Occasionel (29-5%))
Abnormal subclavian artery morphology(Occasionel (29-5%))
Cardiac conduction abnormality(Occasionel (29-5%))
Self-injurious behavior(Occasionel (29-5%))
Sensorineural hearing impairment(Très rare (4-1%))
Cataract(Très rare (4-1%))
Coloboma(Très rare (4-1%))
Natal tooth(Très rare (4-1%))
Seizure(Très rare (4-1%))
Pulmonic stenosis(Très rare (4-1%))
Bicuspid aortic valve(Très rare (4-1%))
Aortic valve stenosis(Très rare (4-1%))
Coarctation of aorta(Très rare (4-1%))
Asthma(Très rare (4-1%))
Cervical cord compression(Très rare (4-1%))
EEG abnormality(Très rare (4-1%))
Intestinal malrotation(Très rare (4-1%))
Syringomyelia(Très rare (4-1%))
Humoral immunodeficiency(Très rare (4-1%))
Cellular immunodeficiency(Très rare (4-1%))
Keloids(Très rare (4-1%))
Vascular ring(Très rare (4-1%))
Pilomatrixoma(Très rare (4-1%))
Recurrent urinary tract infections(Occasionel (29-5%))
Hydrocele testis(Occasionel (29-5%))
Hypospadias(Occasionel (29-5%))
Vesicoureteral reflux(Occasionel (29-5%))
Abnormality of the urinary system(Occasionel (29-5%))
Hydronephrosis(Occasionel (29-5%))
Otitis media(Occasionel (29-5%))
Conductive hearing impairment(Occasionel (29-5%))
Strabismus(Occasionel (29-5%))
Glaucoma(Occasionel (29-5%))
Hypermetropia(Occasionel (29-5%))
Corneal scarring(Occasionel (29-5%))
Nasolacrimal duct obstruction(Occasionel (29-5%))
Nystagmus(Occasionel (29-5%))
Hypodontia(Occasionel (29-5%))
Carious teeth(Occasionel (29-5%))
Dental crowding(Occasionel (29-5%))
Dental malocclusion(Occasionel (29-5%))
Aggressive behavior(Occasionel (29-5%))
Hyperactivity(Occasionel (29-5%))
Nephrolithiasis(Occasionel (29-5%))
Abnormality of the posterior cranial fossa(Occasionel (29-5%))
Trichiasis(Occasionel (29-5%))

🔀 Diagnostic différentiel

Maladies rares qui partagent le plus de phénotypes discriminants avec Syndrome de Rubinstein-Taybi dû à des mutations de CREBBP. Calcul automatique sur les annotations HPO/Orphanet — à confronter au tableau clinique réel.

🔬 Examens & investigations

📋 PNDS — recommandations officielles françaises

Le Protocole National de Diagnostic et Soins est le référentiel HAS pour la prise en charge d'une maladie rare en France. Environ 300 maladies en disposent (plus rare que la maladie elle-même → plus de chances qu'il n'existe pas).

🏥 Centres experts

Liste Orphanet officielle des centres experts pour cette maladie spécifique (CRMR / CCMR) — coordonnées et coordinateurs.

📍 Trouver un spécialiste près de chez vous

Entrez votre ville ou code postal pour filtrer l'annuaire MonRhumato et localiser les centres experts les plus proches.

🔍 Annuaire MonRhumato →🗺️ Google Maps ↗

🧬 Gènes associés & variants

CREBBP16p13.3
Disease-causing germline mutation(s) inAssessed

Codifications validées (4) ↓

ICD-10:Q87.2
MONDO:0008393
OMIM:180849
UMLS:C5681840

Pour aller plus loin (sources publiques)

📚 PubMed récent 🔍 Rhumatologues

Toutes les données médicales : Orphadata (Orphanet, INSERM US14, CC-BY-4.0). Variants : ClinVar (NCBI). Phénotypes : HPO (Jackson Lab). Fiche purement sourcée — aucune donnée hardcodée.