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Nicolaides-Baraitser Syndrome

Nicolaides Baraitser Syndrome


Presentation

  • 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]
  • Literature review was carried out to better define the NBS clinical spectrum and to perform an in-depth differential diagnosis with other malformation syndromes presenting with congenital hypotrichosis.[ncbi.nlm.nih.gov]
  • Some reported patients presented autistic features, although in none of these patients was the diagnosis of autism spectrum disorder formally made.[ncbi.nlm.nih.gov]
  • There are no reported cases in the literature of patients with NCBRS presenting with multiple dental impactions, and to the authors' knowledge, this is the 28th fully documented case of NCBRS and only 75 cases identified as potentially having NCBRS.[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]
Fishing
  • He had short stature and microcephaly with a body height of 85 cm ( Metabolic screening as well as conventional karyotyping, I-FISH testing for trisomy 8 mosaicism, and molecular karyotyping using an Affymetrix 6.0 Array on a 100-kb resolution revealed[ncbi.nlm.nih.gov]
Drooling
  • The mother reported that he suffered from instable feet joints and drooling in early infancy and that he could hardly speak until a very short lingual frenum was cut.[ncbi.nlm.nih.gov]
Advanced Bone Age
  • bone age Early bone maturation [ more ] 0005616 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more ] 0002750 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Hernia 0100790[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]
  • Nicolaides-Baraitser syndrome is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings.[ncbi.nlm.nih.gov]
  • Microcephaly, sparse hair, anteverted alae nasi, undefined philtrum, prominence of distal phalanges and interphalangeal joints, and short metacarpals are also typical of NCBRS.[ncbi.nlm.nih.gov]
  • Main clinical features are severe mental retardation with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges.[ncbi.nlm.nih.gov]
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]
  • 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]
Thin Lips
  • lips [ more ] 0000233 Triangular face Face with broad temples and narrow chin Triangular facial shape [ more ] 0000325 Wide mouth Broad mouth Large mouth [ more ] 0000154 30%-79% of people have these symptoms Abnormal hair pattern Abnormal distribution[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]

Workup

  • 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

  • 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]
  • 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]
  • 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

  • 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]

Etiology

  • 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]
  • […] 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]
  • Loss of BRM expression in different tumor cell lines might indicate that silencing of the SWI/SNF ATPases is involved in the etiology of various tumors [ Reisman et al., 2009 ].[ncbi.nlm.nih.gov]
  • Elsevier Health Sciences , 18.08.2013 - 979 Seiten 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[books.google.de]

Epidemiology

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

Pathophysiology

  • 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]

Prevention

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

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