In summary, two individuals with TBS are presented, with emphasis on the phenotypic variability and natural history. [journals.lww.com]

Upon further investigation, we detected a cryptic subtelomeric deletion of chromosome region 22q13, not present in either parent and probably due to a maternal germinal mosaicism. [ncbi.nlm.nih.gov]

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

• Short Stature

  Keywords: Mental retardation, Nicolaides–Baraitser syndrome, seizures, short stature How to cite this article: Keen A, Majid I. Nicolaides–Baraitser syndrome. [ijpd.in]

  Case report: A girl aged 7 years old of consanguineous parents was referred for short stature and mental retardation. Clinical examination showed dwarfism and a delay in mental development. [endocrine-abstracts.org]

  According to Abou Henedy postnatal short stature was observed in 75% of the reported cases. [10] In our case, the very short postnatal stature is related to partial GH deficiency which can be explained by cerebral malformations plus hydrocephaly as we [pediatricneurosciences.com]

  His short stature became apparent by 6 months of age (Fig. 1a). [nature.com]

  […] dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. [mendelian.co]

• Failure to Thrive

  All cases had failure to thrive, microcephaly, ear dysplasia, laryngomalacia, hearing impairment, gastro-esophageal reflux disease, constipation, abnormal dentition, dermatitis/acrodermatitis enteropathica, hyperpigmentation of the skin, very low insulin-like [ncbi.nlm.nih.gov]

  […] to thrive Faltering weight Weight faltering [ more ] 0001508 Intellectual disability, severe Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ] 0010864 Intrauterine growth retardation Prenatal growth deficiency [rarediseases.info.nih.gov]

  The signs and symptoms of Nicolaides-Baraitser Syndrome may include: Absent speech Aggressive behavior Anteverted nares Brachydactyly Broad philtrum Cryptorchidism Everted lower lip vermilion Failure to thrive Intellectual disability, severe Intrauterine [dovemed.com]

  […] to thrive in infancy Myelodysplasia Plagiocephaly Cubitus valgus Radial deviation of finger Arnold-Chiari malformation Poor suck Patent foramen ovale Decreased antibody level in blood Abnormal form of the vertebral bodies Pachygyria Bicuspid aortic valve [mendelian.co]

  Affected infants may also have diminished muscle tone (hypotonia), a smaller head circumference than would be expected for an infant’s age and sex (microcephaly), and may experience feeding difficulties resulting in failure to thrive. [rarediseases.org]

• Hearing Impairment

  All cases had failure to thrive, microcephaly, ear dysplasia, laryngomalacia, hearing impairment, gastro-esophageal reflux disease, constipation, abnormal dentition, dermatitis/acrodermatitis enteropathica, hyperpigmentation of the skin, very low insulin-like [ncbi.nlm.nih.gov]

  Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures. [mendelian.co]

  impairment, 10.1093/hmg/ddp249 Bryan Keith E., Rubenstein Peter A., Allele-specific Effects of Human Deafness γ-Actin Mutations (DFNA20/26) on the Actin/Cofilin Interaction, 10.1074/jbc.m109.015818 Nunoi H., Yamazaki T., Tsuchiya H., Kato S., Malech [dial.uclouvain.be]

  impairments cleft palate delayed psychomotor development with generally normal intelligence (20% risk of intellectual impairment) lymphatic abnormalities cerebrovascular anomalies Noonan syndrome patients are also at increased risk for hematologic abnormalities [invitae.com]

• Choreoathetoid Movements

  In addition, the lack of choreoathetoid movements makes Lynch–Bushby syndrome unlikely ( Lynch et al., 1997 ). [journals.lww.com]

• High Pain Threshold

  They both exhibited autistic-like behavior in which they would stand still for several minutes with a fixed facial expression in an almost catatonic state; the parents also reported that they had a high pain threshold. [findzebra.com]

• Generalized Tonic-Clonic Seizure

  The first girl had neonatal hypotonia, mental retardation, and generalized tonic-clonic seizures. [omim.org]

Just sequencing the exomes in a patient and two parents will cost around $10,000, he said, but "an extended workup for a complex case may cost $100,000 or more." He also noted that exome sequencing is not perfect. [medpagetoday.com]

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

Another with an MTOR gene defect was to have been started on rapamycin, but died before treatment began. [medpagetoday.com]

Treatment - Nicolaides–Baraitser syndrome No specific treatment is available for Niemann-Pick with care being mostly supportive. Anecdotally, organ transplant has been attempted with limited success. [checkorphan.org]

Prognosis - Nicolaides–Baraitser syndrome Not supplied. Treatment - Nicolaides–Baraitser syndrome No specific treatment is available for Niemann-Pick with care being mostly supportive. [checkorphan.org]

The results obtained will help to correlate genotype-phenotype relationships and serve as a basis to improve the diagnosis and prognosis of the patients and future therapies. Project leader: Prof. Dr. rer. nat. Frank J. Kaiser, Prof. Dr. med. [chromatin-net.eu]

Prognosis The outcome is assessed on the extent and severity of the problems in the individual patient. Most individuals with NS are able to lead normal lives. [patient.info]

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

One of the probable explanations regarding the etiology of this syndrome is that it is caused by a heterogeneous dominant de novo mutation in a single gene. [ijpd.in]

[…] divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies [books.google.de]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Consistent with recent reports, this finding demonstrates that the etiology of many unresolved CNS disorders, including epilepsies, might be explained by pathogenic mosaic mutations. [ncbi.nlm.nih.gov]

The phe-notypic overlay of these syndromes has been attributed to their common molecular etiology, but the molecular consequences of mutations in this chromatin-remodeling complex have yet to be investigated. [chromatin-net.eu]

Epidemiology It is inherited in an autosomal dominant manner. [patient.info]

Sérgio B Sousa Bioinformatics Laboratory, Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, Amsterdam, The Netherlands. [nature.com]

Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). [centogene.com]

Bump hunting to identify differentially methylated regions in epigenetic epidemiology studies. Int J Epidemiol. 2012;41(1):200–9. PubMed PubMed Central Article Google Scholar 37. Li D, Xie Z, Pape ML, Dye T. [bmcmedgenomics.biomedcentral.com]

GO analysis on the CpG sites comprise the NCBRS-SMARCA2 signature identified genes related to NCBRS pathophysiology. [bmcmedgenomics.biomedcentral.com]

SNF-complex members on the epigenetic architecture in a disease-relevant tissue utiliz-ing NOMe-Seq (nucleosome occupancy and methylome sequencing), determine their influ-ence on gene expression and increase the understanding of the molecular etiology and pathophysiological [chromatin-net.eu]

Prevention - Nicolaides–Baraitser syndrome Not supplied. Diagnosis - Nicolaides–Baraitser syndrome Not supplied. Prognosis - Nicolaides–Baraitser syndrome Not supplied. [checkorphan.org]

How can Nicolaides-Baraitser Syndrome be Prevented? Currently, Nicolaides-Baraitser Syndrome may not be preventable, since it is a genetic disorder. [dovemed.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]

These cancers are thought to have occurred because PHF6 is a tumor suppressor gene, in other words a gene that normally prevents the development of cancer. [rarediseases.org]

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]