Symptoma

Nicolaides-Baraitser Syndrome

Nicolaides Baraitser Syndrome

There is variability however, as ID can range from severe to mild, and sparse hair may be present only in certain age groups. [ncbi.nlm.nih.gov]

Synonym(s): Nicolaides-Baraitser syndrome Prevalence: Inheritance: Autosomal dominant or Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: - OMIM: 601358 UMLS: C1303073 MeSH: - GARD: 270 MedDRA: - The documents contained in this web site are presented [orpha.net]

  • 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]

    There is variability however, as ID can range from severe to mild, and sparse hair may be present only in certain age groups. [ncbi.nlm.nih.gov]

    "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]

  • 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 Alopecia-Mental [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]

  • Excessive Wrinkled Skin

    wrinkled skin 0007392 Highly arched eyebrow Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Long eyelashes Increased length of eyelashes Unusually long eyelashes [ more ] 0000527 [rarediseases.info.nih.gov]

  • Widely Spaced Nipples

    nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 5%-29% of people have these symptoms Abnormality of cardiovascular system morphology 0030680 Abnormality of epiphysis morphology Abnormal shape of end part of bone 0005930 Accelerated [rarediseases.info.nih.gov]

  • 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]

  • 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]

  • Dysphasia

    Alopecia Hair loss 0001596 Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Aphasia Difficulty finding words Losing words Loss of words [ more ] 0002381 Brachydactyly Short fingers or toes 0001156 Dysphasia [rarediseases.info.nih.gov]

  • Cesarean Section

    Case Reports Patient 1 Patient 1 (fig. 1A–F ), the third child of healthy, non-consanguineous parents, was born after an uneventful pregnancy at week 38 by cesarean section. [ncbi.nlm.nih.gov]

    Case Reports Patient 1 Patient 1 (fig. 1 A–F), the third child of healthy, non-consanguineous parents, was born after an uneventful pregnancy at week 38 by cesarean section. [karger.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]

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]

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]

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]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.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]

[…] 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]

Prognosis is variable from complete seizure remission, with normal or close to normal development, to a drugresistant epileptic encephalopathy. [docksci.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]

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]

[…] in 14 of the patients gave normal results.Except for the progressive nature there are no clues to the cause. 2009 Wiley-Liss, Inc.Key words: NicolaidesBaraitser syndrome; seizures; mentalretardation; growth retardation; sparse hair; natural history;etiology [documents.tips]

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

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]

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]

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]

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]

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]

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