There is variability however, as ID can range from severe to mild, and sparse hair may be present only in certain age groups. [zora.uzh.ch]

This is a very rare genetic condition affecting several parts of the body presenting symptoms such as a small sized head, distinct facial features, unusually short digits, seizures and intellectual disability. [mybiosource.com]

• Poor Growth

  Other: failure to thrive intrauterine growth retardation poor growth Genitourinary Internal Genitalia Male: cryptorchidism Head And Neck Face: long philtrum triangular face broad philtrum Neurologic Central Nervous System: poor speech mental retardation [malacards.org]

  Apart from the craniofacial characteristics, poor growth and feeding, seizures, absent or delayed speech, variable ID, and behavioral disturbances (ex. decreased inhibitions, self-aggression, compulsive behavior, and sensory sensitivities in some patents [bmcmedgenomics.biomedcentral.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]

• Sparse Hair

  Homepage Rare diseases Search Search for a rare disease Intellectual disability-sparse hair-brachydactyly syndrome Disease definition Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of [orpha.net]

  "An unusual syndrome with mental retardation and sparse hair". Clin. Dysmorphol. 2 (3): 232–6. doi : 10.1097/00019605-199307000-00007. PMID 8287185. ↑ Morin G, Villemain L, Baumann C, Mathieu M, Blanc N, Verloes A (October 2003). [ipfs.io]

  "Orphanet: Intellectual disability sparse hair brachydactyly syndrome". www.orpha.net. [en.wikipedia.org]

• Alopecia

  80%-99% of people have these symptoms Abnormality of the metacarpal bones Abnormality of the long bone of hand 0001163 Alopecia Hair loss 0001596 Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 [rarediseases.info.nih.gov]

  + Alopecia Contractures Dwarfism Mental Retardation Alopecia Epilepsy Oligophrenia Syndrome of Moynahan Alopecia, Epilepsy, Pyorrhea, Mental Subnormality Alopecia, Neurologic Defects, and Endocrinopathy Syndrome Alopecia-Mental Retardation Syndrome 1 [rgd.mcw.edu]

  She has myopia, and her hearing is normal.Her hair, which had always been sparse but with a normal distri-bution, had become more sparse and from 20 years onwards she hadcomplete alopecia, except for a small area over the temples. [documents.tips]

• Periorbital Wrinkling

  Minor anomalies were a triangular face, thin, sparse and soft hair, dry and grayish skin with periorbital wrinkling and flat and sagging malar regions, long eyelashes, a narrow nasal bridge with a relatively bulbous nasal tip and a prominent columella [ncbi.nlm.nih.gov]

• No Speech Development

  […] of eyebrows 0002223 Absent speech Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ] 0001344 Aggressive behavior Aggression Aggressive behaviour Aggressiveness [rarediseases.info.nih.gov]

  Other health conditions may include severe seizures and epilepsy, moderate-several intellectual disability and limited to zero speech development. ⅓ of all individuals with the syndrome will have no speech. [fdna.health]

  and Mental Retardation Hypomagnesemia, Seizures, and Mental Retardation 2 hypoparathyroidism-retardation-dysmorphism syndrome hypoplastic left heart syndrome + Hypospadias-Mental Retardation Syndrome hypothyroidism + HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT [rgd.mcw.edu]

• Staring Spells

  spells 0002121 Blepharophimosis Narrow opening between the eyelids 0000581 Broad distal phalanx of finger Broad outermost finger bone 0009836 Clubbing of toes Clubbing of feet 0100760 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 [rarediseases.info.nih.gov]

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 There is no cure for the disease but the treatment can help with the management of the symptoms. Based on the symptoms, the treatment can consist of medications, physical therapy, speech therapy and occupational therapy. [mybiosource.com]

TREATMENT Treatment of NCBRS focuses on managing individual symptoms. Depending on the symptoms present, treatment might include medication, occupational therapy, physical therapy, speech therapy, and hearing aids. [secure.ssa.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

Despite several treatments, her scalp hair did not grow beyond a particular length. There was also a history of growth retardation and mental impairment. [ijpd.in]

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]

[…] philtrum Large mouth Thin upper and thick lower vermilion Progressive prominence of distal phalanges Progressive prominence of inter-phalangeal joints Short metacarpals – metatarsals [2] Cause This condition occurs via mutations in the SMARCA2 gene [3] Prognosis [wikiwand.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]

Moreover, our long‐term NCBRS follow‐up underscores the challenges of prognosis given phenotypic variability, as well as what anticipatory guidance could be provided. [onlinelibrary.wiley.com]

Homepage Rare diseases Search Search for a rare disease Intellectual disability-sparse hair-brachydactyly syndrome Disease definition Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of [orpha.net]

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]

Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders of unknown cause. [books.google.com]

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]

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

Nicolaides-Baraitser Syndrome: Name: Nicolaides-Baraitser Syndrome 57 73 25 20 43 58 72 36 29 13 6 39 Intellectual Disability-Sparse Hair-Brachydactyly Syndrome 20 58 Sparse Hair and Mental Retardation 57 72 Nicolaides Baraitser Syndrome 70 Characteristics: Orphanet epidemiological [malacards.org]

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]

CONCLUSIONS :: The current findings support an important role of pars opercularis, a center of the mirror neuron system, in the pathophysiology of ASD. [cra-rhone-alpes.org]

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]

Thepublication of a significant number ofadditional variants involving the BAFcomplex genes and the phenotypepresent in the corresponding individualswill bring insight into the mechanismsunderlying the pathophysiological pro-cess and facilitate the discriminationbetween [docslide.com.br]

The publication of a significant number of additional variants involving the BAF complex genes and the phenotype present in the corresponding individuals will bring insight into the mechanisms underlying the pathophysiological process and facilitate the [docksci.com]

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]

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]

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]

Cure & Action for Tay-Sachs (CATS) Foundation Tay-Sachs and Sandhoff disease are genetic disorders that prevent the breakdown of harmful waste products in the brain, causing damage to the brain’s nerve cells. [geneticdisordersuk.org]