Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child

Shawky, Rabah M.; Gamal, Radwa; Mostafa, Nayera Samy

doi:10.1016/j.ejmhg.2015.12.001

Cited by 2 publications

(1 citation statement)

References 27 publications

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“…In males, cryptorchidism and hypospadias are the most prevalent urogenital anomalies [ 13 , 106 , 107 ]. Rare cases of other anomalies including ureteric and renal duplication, ectopic kidneys, renal agenesis, hypoplastic labia are reported [ 40 , 87 , 108 , 109 ]. Renal dysfunction and failure are rare, occurring in a few isolated cases [ 97 , 106 , 110 , 111 , 112 ].…”

Section: Resultsmentioning

confidence: 99%

From Genotype to Phenotype—A Review of Kabuki Syndrome

Barry

Tsaparlis

Hoffman

et al. 2022

Genes

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Kabuki syndrome (KS) is a rare neuro-developmental disorder caused by variants in genes of histone modification, including KMT2D and KDM6A. This review assesses our current understanding of KS, which was originally named Niikawa–Kuroki syndrome, and aims to guide surveillance and medical care of affected individuals as well as identify gaps in knowledge and unmet patient needs. Ovid MEDLINE and EMBASE databases were searched from 1981 to 2021 to identify reports related to genotype and systems-based phenotype characterization of KS. A total of 2418 articles were retrieved, and 152 were included in this review, representing a total of 1369 individuals with KS. Genotype, phenotype, and the developmental and behavioral profile of KS are reviewed. There is a continuous clinical phenotype spectrum associated with KS with notable variability between affected individuals and an emerging genotype–phenotype correlation. The observed clinical variability may be attributable to differences in genotypes and/or unknown genetic and epigenetic factors. Clinical management is symptom oriented, fragmented, and lacks established clinical care standards. Additional research should focus on enhancing understanding of the burden of illness, the impact on quality of life, the adult phenotype, life expectancy and development of standard-of-care guidelines.

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Section: Resultsmentioning

confidence: 99%

From Genotype to Phenotype—A Review of Kabuki Syndrome

Barry

Tsaparlis

Hoffman

et al. 2022

Genes

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Kabuki Syndrome—Clinical Review with Molecular Aspects

Boniel

Sztefko

Śmigiel

et al. 2021

Genes

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Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the structures surrounding the eyes, a shortened and depressed nose, thinning of the upper lip and thickening of the lower lip, large and prominent ears, hypertrichosis and scoliosis. Other characteristics include poor physical growth, cardiac, gastrointestinal and renal anomalies as well as variable behavioral issues, including autistic features. De novo or inherited pathogenic/likely pathogenic variants in the KMT2D gene are the most common cause of KS and account for up to 75% of patients. Variants in KDM6A cause up to 5% of cases (X-linked dominant inheritance), while the etiology of about 20% of cases remains unknown. Current KS diagnostic criteria include hypotonia during infancy, developmental delay and/or intellectual disability, typical dysmorphism and confirmed pathogenic/likely pathogenic variant in KMT2D or KDM6A. Care for KS patients includes the control of physical and psychomotor development during childhood, rehabilitation and multi-specialist care. This paper reviews the current clinical knowledge, provides molecular and scientific links and sheds light on the treatment of Kabuki syndrome individuals.

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Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child

Cited by 2 publications

References 27 publications

From Genotype to Phenotype—A Review of Kabuki Syndrome

From Genotype to Phenotype—A Review of Kabuki Syndrome

Kabuki Syndrome—Clinical Review with Molecular Aspects

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