Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Pre-symptomatic, Therapeutic management, Diagnosis
Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have pachygyria that is predominantly frontal, wasting of the shoulder girdle muscles, and sensory impairment due to iris or retinal coloboma and/or sensorineural deafness. Intellectual disability, which is common but variable, is related to the severity of the brain malformations. Seizures, congenital heart defects, renal malformations, and gastrointestinal dysfunction are also common.
- Aortic valve stenosis
- Ptosis
- Cleft upper lip
- Cryptorchidism
- Patent ductus arteriosus
- Sensorineural hearing impairment
- Hypertelorism
- Wide mouth
- Microphthalmia
- Hypotonia
- Retrognathia
- Seizure
- Bicuspid aortic valve
- Corpus callosum, agenesis of
- Low-set ears
- Iris coloboma
- Chorioretinal coloboma
- Trigonocephaly
- Lissencephaly
- Short stature
- Short neck
- Global developmental delay
- Epicanthus
- Overfolded helix
- Anteverted nares
- Pointed chin
- Long palpebral fissure
- Wide nasal bridge
- Midface retrusion
- Short nose
- Low posterior hairline
- Generalized hypotonia
- Postnatal growth retardation
- Duplication of phalanx of hallux
- Long philtrum
- Thin upper lip vermilion
- Highly arched eyebrow
- Failure to thrive
- Orofacial cleft
- Ventriculomegaly
- Intellectual disability
- Micropenis
- Microcephaly
- Pachygyria
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Autosomal dominant inheritance
The Invitae Brain Malformations Panel analyzes genes that are associated with brain malformations, a collection of disorders of nervous system development that affect the shape and function of the brain. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. These genes were curated based on the available evidence to date in order to provide analysis for brain malformations. Given the clinical overlap of brain malformations, broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Some genes in this test may also be associated with additional unrelated disorders, which are not included in the list of disorders tested. Genetic testing of these genes may help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials.
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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
