🇫🇷 Fiche Orphanet officielle

Syndrome de Mowat-Wilson

ORPHA:2152PathologieCIM-10 : Q43.1CIM-11 : LD2F.1YOMIM : 235730

Synonymes : Syndrome de maladie de Hirschsprung-déficience intellectuelle

Définition clinique

Syndrome rare d'anomalie congénitale multiple caractérisé par un phénotype facial distinct, une déficience intellectuelle, une épilepsie, une maladie de Hirschsprung (HSCR) et des malformations congénitales variables.

🩺 Symptômes & manifestations cliniques

140 phénotypes HPO annotés Orphanet

🟠 Fréquent (79-30%) — 61

Pointed chin
Hypertelorism
Posteriorly rotated ears
Recurrent otitis media
Wide nasal bridge
Depressed nasal tip
Strabismus
Deeply set eye
Telecanthus
Abnormal repetitive mannerisms
Pectus excavatum
Pectus carinatum
Syndactyly
Seizure
Agenesis of corpus callosum
Flexion contracture
Growth delay
Abnormal heart morphology
Patent ductus arteriosus
Abnormal cardiac septum morphology
Pes planus
Hallux valgus
Morphological central nervous system abnormality
Hypoplasia of the corpus callosum
Broad-based gait
Aganglionic megacolon
Intellectual disability, moderate
Sleep abnormality
Motor aphasia
Bowel incontinence
Scoliosis
Delayed skeletal maturation
Genu valgum
Short stature
Decreased body weight
Prominent nasal tip
Impaired pain sensation
Ulnar deviation of the hand
Low hanging columella
Uplifted earlobe
Broad hallux
Long toe
Broad columella
EEG with generalized slow activity
Delayed fine motor development
Intellectual disability, severe
Horizontal eyebrow
Broad eyebrow
Camptodactyly
Neurodevelopmental delay
Delayed ability to walk
Happy demeanor
Hypospadias
Thick lower lip vermilion
Open mouth
Everted lower lip vermilion
Microcephaly
Long face
Mandibular prognathia
Urinary incontinence
Cryptorchidism

🟡 Occasionnel / autres (79) ↓

Reduced social responsiveness(Occasionel (29-5%))
Axenfeld anomaly(Occasionel (29-5%))
Tetralogy of Fallot(Occasionel (29-5%))
Pulmonic stenosis(Occasionel (29-5%))
Bicuspid aortic valve(Occasionel (29-5%))
Aortic valve stenosis(Occasionel (29-5%))
Coarctation of aorta(Occasionel (29-5%))
Asplenia(Occasionel (29-5%))
Calcaneovalgus deformity(Occasionel (29-5%))
Vomiting(Occasionel (29-5%))
Constipation(Occasionel (29-5%))
Pyloric stenosis(Occasionel (29-5%))
Ventriculomegaly(Occasionel (29-5%))
Polymicrogyria(Occasionel (29-5%))
Status epilepticus(Occasionel (29-5%))
Agenesis of cerebellar vermis(Occasionel (29-5%))
Developmental regression(Occasionel (29-5%))
Abnormal cerebral white matter morphology(Occasionel (29-5%))
Inability to walk(Occasionel (29-5%))
Gastrointestinal dysmotility(Occasionel (29-5%))
Recurrent infections(Occasionel (29-5%))
Bruxism(Occasionel (29-5%))
Decreased circulating antibody level(Occasionel (29-5%))
Enterocolitis(Occasionel (29-5%))
Abnormal dental morphology(Occasionel (29-5%))
Focal white matter lesions(Occasionel (29-5%))
Large basal ganglia(Occasionel (29-5%))
Periventricular heterotopia(Occasionel (29-5%))
Atypical absence seizure(Occasionel (29-5%))
Focal-onset seizure(Occasionel (29-5%))
EEG with spike-wave complexes(Occasionel (29-5%))
Enlarged cerebellum(Occasionel (29-5%))
Abnormal hippocampus morphology(Occasionel (29-5%))
Dependency on intravenous nutrition(Occasionel (29-5%))
Focal cortical dysplasia(Occasionel (29-5%))
Hydrocele testis(Très rare (4-1%))
Chordee(Très rare (4-1%))
Bifid scrotum(Très rare (4-1%))
Micropenis(Très rare (4-1%))
Cleft palate(Très rare (4-1%))
Bifid uvula(Très rare (4-1%))
Sensorineural hearing impairment(Très rare (4-1%))
Oligomenorrhea(Très rare (4-1%))
Septate vagina(Très rare (4-1%))
Dysphagia(Très rare (4-1%))
Recurrent fractures(Très rare (4-1%))
Tracheal stenosis(Très rare (4-1%))
Pulmonary artery sling(Très rare (4-1%))
Anterior plagiocephaly(Très rare (4-1%))
Webbed penis(Très rare (4-1%))
Cleft hard palate(Très rare (4-1%))
Submucous cleft of soft and hard palate(Très rare (4-1%))
Multicystic kidney dysplasia(Occasionel (29-5%))
Renal duplication(Occasionel (29-5%))
Vesicoureteral reflux(Occasionel (29-5%))
Abnormality of the kidney(Occasionel (29-5%))
Pelvic kidney(Occasionel (29-5%))
Hydronephrosis(Occasionel (29-5%))
Gingival overgrowth(Occasionel (29-5%))
Conductive hearing impairment(Occasionel (29-5%))
Abnormality of the eye(Occasionel (29-5%))
Retinal coloboma(Occasionel (29-5%))
Astigmatism(Occasionel (29-5%))
Cataract(Occasionel (29-5%))
Myopia(Occasionel (29-5%))
Microphthalmia(Occasionel (29-5%))
Iris coloboma(Occasionel (29-5%))
Nystagmus(Occasionel (29-5%))
Dental crowding(Occasionel (29-5%))
Delayed eruption of teeth(Occasionel (29-5%))
Widely spaced teeth(Occasionel (29-5%))
Tooth malposition(Occasionel (29-5%))
Anxiety(Occasionel (29-5%))
Adducted thumb(Occasionel (29-5%))
Tapered finger(Occasionel (29-5%))
Ataxia(Occasionel (29-5%))
Hypotonia(Occasionel (29-5%))
Spasticity(Occasionel (29-5%))
Cerebellar vermis hypoplasia(Occasionel (29-5%))

🔀 Diagnostic différentiel

Maladies rares qui partagent le plus de phénotypes discriminants avec Syndrome de Mowat-Wilson. 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 ↗

Codifications validées (7) ↓

GARD:9673
ICD-10:Q43.1
ICD-11:LD2F.1Y
MONDO:0009341
MeSH:C536990
OMIM:235730
UMLS:C1856113

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.