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Non-syndromic craniosynostosis
2021Abstract Craniosynostosis is defined as the premature fusion of a skull suture and has an incidence of approximately 1:2000 live births. Historically, craniosynostosis was subdivided into primary and secondary synostosis. Further subclassifications included syndromic/non-syndromic and single/multisuture.
Christian Duncan, Hiroshi Nishikawa
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Non-syndromic craniosynostosis
Nature Reviews Disease PrimersCraniosynostosis is characterized by the premature fusion of one or more major cranial sutures at birth or soon after. Single-suture non-syndromic craniosynostosis (NSC) is the most common form of craniosynostosis and includes the sagittal, metopic, unicoronal and unilambdoid subtypes.
Michael Alperovich +3 more
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Non-syndromic autosomal-dominant deafness
Clinical Genetics, 2002Non‐syndromic deafness is a paradigm of genetic heterogeneity. More than 70 loci have been mapped, and 25 of the nuclear genes responsible for non‐syndromic deafness have been identified. Autosomal‐dominant genes are responsible for about 20% of the cases of hereditary non‐syndromic deafness, with 16 different genes identified to date.
Michael B. Petersen
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Non-syndromic, autosomal-recessive deafness
Clinical Genetics, 2006Non‐syndromic deafness is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear disease genes reported so far. Autosomal‐recessive genes are responsible for about 80% of the cases of hereditary non‐syndromic deafness of pre‐lingual onset with 23 different genes identified to date.
Michael B. Petersen, P J Willems
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Retinitis Pigmentosa (Non-syndromic)
2018Most of the genes causing autosomal recessive retinitis pigmentosa (AR-RP) are rare and cause 1% of all cases. Some of the genes, like PDE6 (PDE6A, PDE6B, PDE6G), RP25, and RPE65, have higher prevalence, about 2-5% of all cases. Overall, autosomal recessive RP accounts for about 15-20% of all cases of RP.
Stephen H, Tsang, Tarun, Sharma
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Hair phenotype in non-syndromic deafness
International Journal of Pediatric Otorhinolaryngology, 2013The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell-cell attachment of almost all tissues. GJB2 mutations cause autosomal recessive (DFNB1) and sometimes dominant (DFNA3) non-syndromic sensorineural hearing loss.
Volo T +6 more
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Multifactorial inheritance of non‐syndromic macrocephaly
Clinical Genetics, 1996Objective: To reevaluate previous claims that non‐syndromic macrocephaly is usually inherited as an autosomal dominant trait. Design: Head size was measured in the parents and sibs of children with non‐syndromic macrocephaly. Outcome measures: If autosomal dominant inheritance is involved, the frequency distribution should be bimodal.
L, Arbour +3 more
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Genetics and non-syndromic facial growth
Journal of Pediatric Genetics, 2015Just as pediatricians and endocrinologists are interested in understanding statural growth patterns and the prediction of adult height, pediatric dentists, orthodontists, and oral/maxillofacial surgeons need to be knowledgeable about a patient’s facial growth patterns to effectively treat them.
James K, Hartsfield +3 more
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Inherited ichthyosis: Non‐syndromic forms
The Journal of Dermatology, 2016Abstract Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, and often associated with erythroderma. These manifestations are due to mutations in genes mostly involved in skin barrier formation.
Takuya, Takeichi, Masashi, Akiyama
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