Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome.
- Abdominal distention
- Ptosis
- Constipation
- Cryptorchidism
- Drooling
- Patent ductus arteriosus
- Esotropia
- Atrial septal defect
- Ventricular septal defect
- Aganglionic megacolon
- Hypertelorism
- Microphthalmia
- Hypotonia
- Pyloric stenosis
- Seizure
- Intellectual disability, severe
- Strabismus
- Vomiting
- Cataract
- Pectus carinatum
- Corpus callosum, agenesis of
- Pulmonary artery stenosis
- Delayed eruption of teeth
- Iris coloboma
- Chorioretinal coloboma
- Supernumerary nipple
- Abnormality of the kidney
- Microcornea
- Bifid scrotum
- Hypoplasia of the corpus callosum
- Short stature
- Downslanted palpebral fissures
- Deeply set eye
- Submucous cleft hard palate
- Delayed speech and language development
- Abnormality of the genital system
- Recurrent otitis media
- Hypospadias
- Congenital ectopic pupil
- Abnormal corpus callosum morphology
- Pointed chin
- Large earlobe
- Widely spaced teeth
- Cupped ear
- Wide nasal bridge
- Tooth malposition
- Motor delay
- Absent speech
- Happy demeanor
- Uplifted earlobe
- Prominent nasal tip
- Low hanging columella
- Broad eyebrow
- Pulmonary artery sling
- Generalized hypotonia
- Large basal ganglia
- Pulmonic stenosis
- Pectus excavatum
- Cleft palate
- Ventriculomegaly
- Generalized muscle hypertrophy
- Aplasia/Hypoplasia of the cerebral white matter
- Abnormal eye morphology
- Abnormality of enteric ganglion morphology
- Abnormal hippocampus morphology
- Microcephaly
- Abnormal heart morphology
Show allNot provided
This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.
Citations
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