Six additional individuals with a similar phenotype have been reported in the world literature. 2-6 Microphthalmos, microcornea, and brain malformations were added to the phenotypic spectrum of this syndrome in 1995 (Table 1). 5 We report a child who presented [squ.pure.elsevier.com]

Structural brain abnormalities are also present in most people with Baraitser-Winter syndrome. [medlineplus.gov]

Signs and Symptoms[edit] Fryns-Aftimos Syndrome is a genetic conditions that presents with a multitude of varying signs, symptoms and characteristics facies. [en.wikipedia.org]

MMA Henedy MJ Marafie SJ Abulhasan Abstract An Arab child is presented herein with a phenotype that fits the rare Baraitser–Winter syndrome. [ajol.info]

Patient 2 presented with a bilateral cleft lip and cleft palate. [ncbi.nlm.nih.gov]

• Developmental Delay

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

  Baraitser-Winter syndrome is a rare autosomal recessive disorder characterized by developmental delay, dysmorphic features, and multiple malformations also involving the brain. [experts.umn.edu]

  In addition, she had cardiac defect, previously undescribed brain anomaly, seizures, hypotonia and developmental delay. Chromosomal analysis of the peripheral lymphocytes and FISH study revealed a normal 46, XX karyotype. [ajol.info]

  […] a mechanism through which to manage associated characteristics of developmental delay.[12] The frequency and duration of treatment is largely dependent upon the severity of the disability itself. [en.wikipedia.org]

  The severity of intellectual disability/developmental delay and presence of seizures correlates with the degree to which neuronal migration defects are evident. [invitae.com]

• Multiple Congenital Anomalies

  Clinical aspects Besides distinctive craniofacial findings, this multiple congenital anomaly syndrome is characterized by developmental delay, which is present in most patients and varies from mild to severe and often correlates with the extent of the [accesspediatrics.mhmedical.com]

  It is a multiple congenital anomaly syndrome, meaning it is present at birth and affects multiple parts of the body. [fdna.health]

  Prenatal growth retardation, microcephaly, and eye coloboma in infant with multiple congenital anomalies: further delineation of presumed new dysmorphic syndrome. Birth Defects Res A Clin Mol Teratol 2008;82:166-8. [24] Hall BD. [cyberleninka.org]

  Multiple congenital anomalies: a diagnostic compendium. Springer; 2013. 1412 p. [e-bmv.bsmu.edu.ua]

• Falling

  These two patients and a review of the previously reported cases indicate that a specific pattern of brain anomalies falling in the agyria-pachygyria-band spectrum is associated with this dysmorphic syndrome, which may be considered another example of [experts.umn.edu]

  Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions. [invitae.com]

• Failure to Thrive

  […] to thrive Postnatal growth retardation Short stature 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. [ncbi.nlm.nih.gov]

  […] to thrive Micrognathia Ptosis And another 53 symptoms. [mendelian.co]

  […] to thrive Faltering weight Weight faltering [ more ] 0001508 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intellectual [rarediseases.info.nih.gov]

  […] to thrive in infancy, sometimes requiring tube feeding thin hair that becomes wooly and curly with age abnormal pigmentation males with uni- or bilateral cryptorchidism (up to 80%) renal anomalies (dilation of renal pelvis) hearing impairments cleft [invitae.com]

• Macrostomia

  Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype. [ncbi.nlm.nih.gov]

  Facial features are striking: arched eyebrows; proptosis, hypertelorism; downslanting palpebral fissures; broad nasal bridge; macrostomia and dysplastic, low-set ears. [doi.org]

  […] microlissencephaly Poirier, K; Martinovic, J; Laquerrière, A Severe forms of Baraitser‐Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations Di Donato, N; Rump, A; Koenig, R Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia [deepdyve.com]

  These include trigonocephaly, arched eyebrows, long palpebral fissures, hypertelorism, ptosis, short nose, anteverted nares, wide nasal tip, long philtrum, macrostomia, thin upper lip, and prominent lower lip. [preventiongenetics.com]

• Myopathy

  Ataxia, and Neuropathy Pendred Syndrome Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss Perrault Syndrome Renal tubular acidosis with deafness Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance syndrome [genedx.com]

  ORPHANET Genetic Syndrome Finder If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTHEMIA 3; THCYT3 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM LÉRI-WEILL DYSCHONDROSTEOSIS [mendelian.co]

  Karakozova, M; Kozak, M; Wong, CCL γ‐Actin is required for cytoskeletal maintenance but not development Belyantseva, IA; Perrin, BJ; Sonnemann, KJ Cytoplasmic γ‐actin is not required for skeletal muscle development but its absence leads to a progressive myopathy [deepdyve.com]

  […] type 2 CEP57 Mulibrey nanism TRIM37 Multiple congenital anomalies-hypotonia-seizures syndrome type 1 PIGN Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3 Myhre syndrome SMAD4 Native American myopathy [centogene.com]

  The differential diagnosis includes mitochondrial myopathies, oculopharyngeal muscular dystrophy (OPMD), oculopharyngodistal myopathy (ODM) and myotonic dystrophy. Figure 1. [reviewofophthalmology.com]

• Strabismus

  hypertelorism, optic atrophy AD FGFR2 #123500 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (CROUZONODERMOSKELETAL SYNDROME) Shallow orbits, proptosis, strabismus, hypertelorism, optic atrophy AD FGFR3 #612247 CUTIS LAXA, DEBRE TYPE Strabismus, myopia, [eyewiki.aao.org]

  Other clinical features included: Strabismus, epicanthic folds, broad nasal bridge, and brain anomalies such as lissencephaly, bilateral hygroma, and cerebral atrophy. [pediatricneurosciences.com]

  Further ocular abnormalities were also reported; such as microphthalmia, microcornea, iris heterochro-mia, bilateral aniridia, optic nerve and choroidal coloboma, refractive errors, esotropia, nystagmus and strabismus [4,7,8,12]. [cyberleninka.org]

  […] because of a mu-ion in the PAX-8 gene.5 PAX-8 maps to human chro-some 2q12-14,11 a site coincident with the chromo-al anomaly identied in previous studies.2,3Patients with Baraitser-Winter syndrome have visuallynicant ocular abnormalities (colobomas, strabismus [documents.tips]

• Hearing Impairment

  Roux, Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients, Scientific Reports, 10.1038/s41598-017-16846-9, 7, 1, (2017). [doi.org]

  impairment Microcephaly Growth delay Hypertelorism Failure to thrive And another 103 symptoms. [mendelian.co]

  Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound. [rarediseases.oscar.ncsu.edu]

  Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients. Sci. Rep. 2017, 7, 16783. [mdpi.com]

• Short Neck

  Her clinical features included a unilateral iris coloboma, ptosis, hypertelorism, epicanthic folds, broad nasal bridge, full cheeks, pointed chin, low set abnormal ears and short neck. [ajol.info]

  In addition, the phenotype includes dwarfism with short neck and heart malformations. [pediatricneurosciences.com]

  Show allHide all Abnormality of head or neck Anteverted nares Cleft upper lip Epicanthal fold Highly arched eyebrow Long palpebral fissure Long philtrum Low posterior hairline Midface retrusion Oral cleft Pointed chin Short neck Short nose Thin upper [ncbi.nlm.nih.gov]

  In addition, phenotype includes short stature, a short neck with webbing or redundancy of skin, cardiac anomalies, epicanthic folds, deafness, motor delay, and a bleeding diathesis. [cyberleninka.org]

• Bulbous Nose

  Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and [ebi.ac.uk]

  Association of: - facial dysmorphism: hypertelorism with bilateral ptosis; wide and long, downslanting palpebral fissures; arched eyebrows; broad and bulbous nose (sometimes bifid); small, often anteriorly oriented ears. Ridged metopic suture. [sites.uclouvain.be]

  Mendelian Rare Diseases BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME Description Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched [mendelian.co]

  Bulbous nose Bulbous nasal tip, Potato nose Increased volume and globular shape of the anteroinferior aspect of the nose. [rarediseases.oscar.ncsu.edu]

• Psychomotor Retardation

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

  Most of the patients had severe psychomotor retardation with or without epilepsy (16 of 24), whereas only 5 patients had normal development or a mild mental deficit. [jamanetwork.com]

• Global Developmental Delay

  developmental delay Intellectual disability Lissencephaly Pachygyria Seizure Ventriculomegaly Ear malformation Low-set ears Overfolded helix Sensorineural hearing loss disorder Growth abnormality Failure to thrive Postnatal growth retardation Short stature [ncbi.nlm.nih.gov]

  All Countries Arab Oman United Arab Emirates Subject ID Country Sex Family History Parental Consanguinity HPO Terms Variant Zygosity Mode of Inheritance Reference Remarks 243310.1 United Arab Emirates Female No Yes Global developmental delay; Abnormal [cags.org.ae]

  developmental delay Microcephaly Scoliosis Growth delay Hypertelorism Failure to thrive Micrognathia Ptosis And another 53 symptoms. [mendelian.co]

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

• Delayed Milestone

  Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

[…] a mechanism through which to manage associated characteristics of developmental delay.[12] The frequency and duration of treatment is largely dependent upon the severity of the disability itself. [en.wikipedia.org]

Treatment Treatment Options: There is no known treatment but special education, hearing devices, and physical therapy may be helpful. [disorders.eyes.arizona.edu]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]

Prognosis Early prognosis may be poor in those with severe brain anomalies, but most patients with milder CNS anomalies can reach adulthood, although most patients will never be autonomous. [orpha.net]

Diagnosis and Prognosis: The diagnosis is most likely to be made by a pediatrician but other specialists such as neurologists, neurosurgeons, ophthalmologists, and ear, nose and throat physicians are likely to be consulted. [disorders.eyes.arizona.edu]

[…] syndrome Other names Baraitser-Winter Syndrome 1 (BWS1), Cerebro-oculo-facial-lymphatic Syndrome, Chromosome 7p22 Deletion Syndrome Causes De novo mutation, autosomal dominant Diagnostic method Serial single-gene testing, multigene panel, exome sequencing Prognosis [en.wikipedia.org]

Heart malformations and epileptic crises can worsen the poor prognosis. [pediatricneurosciences.com]

Retrieved 2021-04-26. ^ "Etiology vs. Epidemiology: Important Concepts in Nursing". Regis College Online. 2019-09-10. [en.wikipedia.org]

However, the exact etiology of BaWSremains unknown [4,5]. In our patient, BAC aCGHand G-banding chromosome analyses did not revealany abnormalities. [docslide.com.br]

Etiology BWS is a genetically heterogeneous disorder, caused by a heterozygous mutation in one of the 2 genes coding for ubiquitously expressed actins: ACTB, located to 7p22-p12 (BRWS1) and ACTG1 on 17q25.3 (BRWS2). [orpha.net]

Results We established an etiological diagnosis in 45 of 113 cases (40%). [jamanetwork.com]

ABSTRACT Exome sequence analysis can be instrumental in identifying the genetic etiology behind atypical disease. [doi.org]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.ro]

Summary Epidemiology BWS and FA were initially considered separate entities. They were reported collectively in approximatively 30 unrelated patients so far. [orpha.net]

At the pathophysiological level, a common pathophysiology of the Baraitser-Winter cerebrofrontofacial syndrome type 2 and OCS would be possible. [link.springer.com]

/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 100% Primary diagnosis of substance abuse 0% Primary diagnosis of Alcohol 0% Unclassified 0% Developmental [medicbind.com]

Internationally recognized scientists and physicians at the Research Institute are advancing new discoveries in cancer, genetics, immunology, pathology, infectious disease, injury prevention and bioethics. [newswise.com]

For treatment, there is not any specific one, but anti-epileptic drugs can help to decrease seizures 'frequency, and GH could be used to improve the final stature and prevent insulin-resistance and metabolic syndrome in adulthood. [pediatricneurosciences.com]

In addition, the patient improved under cognitive behavioral psychotherapy with exposure and response prevention (Fig. 1). [link.springer.com]