Kabuki make-up syndrome: A review

Published on Feb 15, 2003in American Journal of Medical Genetics Part C-seminars in Medical Genetics7.101
· DOI :10.1002/AJMG.C.10020
Naomichi Matsumoto79
Estimated H-index: 79
(Nagasaki University),
Norio Niikawa82
Estimated H-index: 82
(Nagasaki University)
Sources
Abstract
Kabuki make-up syndrome (KMS, OMIM 147920) is an MCA/MR syndrome of unknown cause. It is characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatoglyphic patterns. Approximately more than 350 cases have been reported from all over the world. Besides these five cardinal manifestations, joint laxity (74%), dental abnormalities (68%), and susceptibility to infections including recurrent otitis media (63%) were well recognized as other frequent features. A variety of visceral anomalies such as caidiovascular anomalies (42%), renal and/or urinary tract anomalies (28%), biliary atresia, diaphragmatic hernia, and anorectal anomaly were also reported. Some patients were said to have normal intelligence (16%) and normal heights, suggesting that they may have reproductive fitness to have their children. At least eight patients had lower lip pits with or without cleft palate, known as a feature of van der Woude syndrome. There have been 13 chromosomal abnormalities associated with KMS. However, no common abnormalities or breakpoints that possibly contribute to positional cloning of the putative KMS gene(s) are known. Although clinical manifestations of KMS are well established, its natural history, useful for genetic counseling, remains to be studied. © 2003 Wiley-Liss, Inc.
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#1Helena H. Ho (UBC: University of British Columbia)H-Index: 13
#2Linda C. EavesH-Index: 5
Kabuki make-up syndrome (KMS), also known as Niikawa-Kuroki syndrome, is a rare malformation complex characterized by a peculiar facies with long palpebral fissures and partially everted lower eyelid, mental retardation, dwarfism, and skeletal and dermatoglyphic abnormalities/ Four children from different ethnic groups presented with phenotypic manifestation of KMS. They showed variable degrees of learning disabilities, mental retardation, and autistic behavior. Two boys declined in IQ in early ...
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We report a case of a 19-year-old male with the cardinal features of the Kabuki syndrome (KS) and, in addition, with severe immunodeficiency. Finding immune deficiency in a KS patient, prompted us to determine whether this association was related to a deletion within the DiGeorge chromosomal region. Fluorescence in situ hybridization (FISH) with the Oncor probe N25(D22S75) revealed no deletion of 22q11.2 in the patient.
33 CitationsSource
#1Norio Niikawa (Hokkaido University)H-Index: 82
#2Y. KurokiH-Index: 1
Last. Tadashi Kajii (Yamaguchi University)H-Index: 32
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Abstract Dermatoglyphic analyses of 12 patients with the newly recognized Kabuki make-up syndrome revealed a combination of unusual dermatoglyphic patterns. They included frequent fingertip ulnar loop patterns (72%), the absence of digital triradius c or d (25%), an interdigital triradius bc or cd (33%), hypothenar loop patterns (67%), and ulnar loop patterns in the fourth interdigital area (17%). Other unusual findings included persistence of fingertip pads (58%), a single flexion crease of the...
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#1Julie McGaughranH-Index: 31
#2Salim AftimosH-Index: 27
Last. Ingrid WinshipH-Index: 50
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Nine eases of Kabuki syndrome have been identified in Auckland and surrounding regions in the North Island, New Zealand since 1995. All have the characteristic facial dysmorphism and many of the well-described associated anomalies. Some of the abnormalities were unusual including a case with severe congenital mitral stenosis, two cases of eventration of the diaphragm, idiopathic thrombocytopaenic purpura and vitiligo. One child had an Arnold Chiari type I malformation and another had epibulbar d...
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#2Bruno MarinoH-Index: 60
Last. Bruno Dallapiccola (Sapienza University of Rome)H-Index: 105
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Kabuki makeup (Niikawa-Kuroki) syndrome (KS) is characterized by distinct facial anomalies, mental retardation, congenital heart defect (CHD), and skeletal malformations. In the present study we analyze cardiac characteristics and differences in sex prevalence of specific CHDs in our series of patients with KS and review published reports from the literature. Between January 1992 and February 2000, 60 patients (37 males and 23 females) with KS underwent phenotypic and cardiac evaluations at our ...
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SUMMARY The purpose of this investigation was to evaluate the craniofacial growth of a patient diagnosed with Kabuki make-up syndrome (KMS). Craniofacial growth was assessed by analysing lateral cephalometric radiographs with an interval of 12‐15 months. They were taken from 6 years 9 months to 14 years 2 months. Angular and linear measurement analyses of the craniofacial complex showed a hypoplastic maxilla and a constricted maxillary basal arch width. The mandibular size was relatively large a...
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#1Tullio Frediani (Sapienza University of Rome)H-Index: 17
#1Frediani TH-Index: 1
Last. Bruni LH-Index: 1
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: The Niikawa-Kuroki (Kabuki make-up) syndrome is a recognizable pattern of malformation consisting of mental retardation, dysmorphic cranio-facial features, bone and joint anomalies, postnatal growth deficiency and susceptibility to infections. Two male siblings, 8 and 5 years of age, displaying characteristic clinical and radiological manifestations of this syndrome as well as their father, who displays only some of the facial features, are presented.
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#1Abdullah Bereket (Marmara University)H-Index: 31
#2Serap TuranH-Index: 27
Last. Figen AkalinH-Index: 9
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Abstract A 4 year-old boy with mental retardation and seizures presented to the pediatric endocrinology clinic because of a history of hypoglycemia; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of Kabuki syndrome was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with Kabuki syndrome. Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ syste...
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#1M M van HaelstH-Index: 1
#1Mieke M. van Haelst (EUR: Erasmus University Rotterdam)H-Index: 30
Last. Patrick J. Willems (EUR: Erasmus University Rotterdam)H-Index: 1
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Kabuki syndrome is a rare multiple congenital anomalies/mental retardation syndrome comprising a distinct facial appearance and fetal fingertip pads. We observed two patients with Kabuki syndrome and describe unusual life-threatening complications, including stenosis of the central airways (not previously reported), extrahepatic biliary atresia, and congenital diaphragmatic hernia.
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#1Winnie CourtensH-Index: 18
#2Anne Rassart (Boston Children's Hospital)H-Index: 1
Last. Eszter VamosH-Index: 11
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Most cases with Kabuki syndrome (KS) were reported sporadically. Recently, a few familial cases of KS were reported. This report provides further evidence that the KS is inherited as a dominant trait with variable expressivity. The proposita is an 18-month-old girl with facial findings characteristic of Kabuki syndrome, prominent fingertip-pads, a midsagittal cleft of vertebral body D4, hypotonia, and psychomotor retardation. Her mother had a similar facial appearance, prominent, cup-shaped ears...
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Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability. The syndrome is caused by KMT2D gene mutations or less frequently KDM6A gene mutations or deletions. We report a systematic evaluation of KS patients from Campania region of Italy; data were also compared with literature ones. We collected data of 15 subjects (8 males and 7 females with age range 10–26 years; mean age 16.9 y...
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#2Haruo FujinoH-Index: 14
Last. Fujino H
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#1Víctor Faundes (University of Manchester)H-Index: 8
#2Stephanie Goh (University of Manchester)
Last. Siddharth Banka (University of Manchester)H-Index: 27
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Purpose The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood. Methods Genetic and clinical details of new and published individuals with pathogenic KDM6A variants were compiled and analyzed. Results Sixty-one distinct pathogenic KDM6A variants (50 truncating, 11 missense) from 80 patients (34 males, 46 females) were identified. Missense variants clustered in the TRP 2, 3, 7 and Jmj-C domains. Truncating variants were significantly more likely to b...
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#1Chong Kun Cheon (PNU: Pusan National University)H-Index: 14
#2Hee Young Choi (PNU: Pusan National University)H-Index: 12
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Background: We investigated the ocular manifestations in patients with Kabuki syndrome(KS). Methods: A retrospective chart review was performed in 10 patients with KS were referred to the Department of Ophthalmology for evaluation of ocular manifestations. Data were collected from patient interviews, clinical examinations, and laboratory investigations. Ophthalmologic examinations included best-corrected visual acuity, intraocular pressure, anterior segment, adnexal examination, and dilated fund...
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#2Cristina Scozzafava (Magna Græcia University)
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Kabuki syndrome (KS) is a rare genetic condition with multiple congenital abnormalities and developmental delay. The cardinal manifestations of KS include characteristic facial features, intellectual disability, skeletal defects, dermatoglyphic abnormalities, and postnatal growth deficiencies. Cardiac and urological malformations are commonly present in patient with KS, as well as language deficits and immunological abnormalities. Here, we report a case of a child with an atypical form of KS, as...
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Kabuki syndrome is characterized by multiple systemic anomalies and intellectual disability. It is complicated with immunodeficiencies and autoimmune disorders. The syndrome is caused by a mutation in the KMT2D gene. We herein report a case of a Kabuki syndrome with developing immune thrombocytopenic purpura (ITP) and progressive splenomegaly. Laparoscopic splenectomy was performed and the patients' symptoms quickly disappeared with platelet recovery. After this operation, the patient had no sev...
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#1Talaat HamdiH-Index: 1
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Kabuki syndrome is an uncommon genetic disease associated with skeletal, cardiac, neurological, and ocular manifestations. Strabismus is an ophthalmic manifestation of Kabuki syndrome; however, it is infrequently documented in detail. We report a case of Kabuki syndrome in a patient who presented with large angle congenital esotropia. This case report highlights the importance of early eye examinations and subsequent interventions in patients diagnosed with Kabuki syndrome.
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Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A. KS is characterized by multiple congenital anomalies and neurodevelopmental disorders. Growth restriction is frequently reported. Here we aimed to create specific growth charts for individuals with KS1, identify parameters used for size prognosis and investigate the impact of growth hormone therapy on adult height. Growth parameters and parental size were obtained for 95 KS1 individu...
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