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]

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

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]

  The aforementioned abnormalities are probably responsible for short stature with or without GH deficiency, intellectual disability, seizures, and hearing loss. [pediatricneurosciences.com]

  stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Short palpebral fissure Short opening between the eyelids 0012745 Status epilepticus Repeated seizures without recovery between them 0002133 Wide intermamillary distance Wide-spaced [rarediseases.info.nih.gov]

  Definition A rare disorder characterized by severe mental retardation with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. [uniprot.org]

  Symptoms - Nicolaides–Baraitser syndrome The most common symptoms of Nicolaides–Baraitser syndrome are mild to severe developmental delays with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly [checkorphan.org]

• Failure to Thrive

  […] 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]

  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 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]

  The neonatal period was complicated by muscular hypotonia, feeding difficulties, and failure to thrive. Bilateral inguinal hernias were operated. Furthermore, mild aortic coarctation and cryptorchism were diagnosed. [karger.com]

• Decrease in Height

  […] body height Small stature [ more ] 0004322 Unilateral narrow palpebral fissure 0007946 Widely spaced teeth Wide-spaced teeth Widely-spaced teeth [ more ] 0000687 Percent of people who have these symptoms is not available through HPO Absent eyebrow Failure [rarediseases.info.nih.gov]

• 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]

  Moreno-Pelayo Miguel Ángel, In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment, 10.1093/hmg/ddp249 Bryan Keith E., Rubenstein Peter A., Allele-specific Effects of Human Deafness γ-Actin Mutations [dial.uclouvain.be]

  DUBOWITZ SYNDROME Is also known as ; Related symptoms: Intellectual disability Seizures Short stature Hearing impairment Microcephaly SOURCES: ORPHANET More info about DUBOWITZ SYNDROME Low match NOONAN SYNDROME 1; NS1 Noonan syndrome (NS) is an autosomal [mendelian.co]

  […] blue-green irises failure 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 [invitae.com]

• Choreoathetoid Movements

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

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]

• Shortened Long Bone

  long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Short phalanx of finger Short finger bones 0009803 Sparse scalp hair Scalp hair, thinning Sparse, thin scalp hair sparse-absent scalp hair [ more ] 0002209 Thick lower lip vermilion [rarediseases.info.nih.gov]

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]

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

The complications of Nicolaides-Baraitser Syndrome may include: Physical deformities Bone disorders Intellectual impairment Reduced quality of life Complications may occur with or without treatment, and in some cases, due to treatment also. [dovemed.com]

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]

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

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]

[…] 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]

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]

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]

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

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

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

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]

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]

If you are thinking of harming yourself or your baby, get help right away by calling the National Suicide Prevention Lifeline at 1-800-273-8255, or dialing 911. For more resources, you can visit Postpartum Support International . [romper.com]