Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome

Abstract

This study was undertaken to document the phenotype of Kabuki (Niikawa-Kuroki) syndrome in patients from Australia and New Zealand, with particular emphasis on growth patterns, behavior, and relationship between head circumference and intellectual level. Data on 27 children and adults with Kabuki (Niikawa-Kuroki) syndrome from Australia and New Zealand were collected by questionnaire and clinical assessment. The patients ranged in age from 7 months to 36 years with a mean age of 7 years and 2 months. The mean age at diagnosis was 3(5/6) years, but in most cases, the facial phenotype was evident from infancy. The minimum birth prevalence was calculated at 1 in 86,000. Three of our patients died. Parents reported a behavior phenotype characterized by an excellent long-term memory and avoidance of eye contact. No correlation was found between head circumference and severity of intellectual disability. Eight of 14 patients over the age of 5 years were overweight or obese. Six of these eight patients had failure to thrive in infancy. One patient developed insulin-dependent diabetes mellitus in adolescence. Some individuals with Kabuki (Niikawa-Kuroki) syndrome show a characteristic growth profile with failure to thrive in infancy progressing to obesity or overweight in middle childhood or adolescence. A behavior phenotype was noted which requires further investigation. Head size is not a predictor of degree of intellectual disability.

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome

“…1,2 The prevalence was estimated to be 1/32,000 in Japan 3 and 1/86,000 in Australia and New Zealand. 4 Although most cases were sporadic, at least 14 familial cases have been reported. It is thought that KS is an autosomal dominant disorder considering the equal male-to-female ratio of patients and parent-child transmission pattern in some familial cases.…”

“…5 The cause of KS remains unknown, even though at least 400 patients have been known in a variety of ethnic groups since 1981. [3][4][5][6][7] Some works have ruled out several loci, e.g., 1q32-q41, 8p22-p23.1 and 22q11, from the candidate for KS. [8][9][10][11][12][13] A study of array-based comparative genomic hybridization (CGH) showed a disruption of C20orf133(MACROD2) gene by ~250 kb deletion on a patient with KS 14 , but the following mutation screening for the gene failed to find pathogenic base change within exons in other 19 patients with KS 14 and in 43 Japanese patients.…”

A case of Kabuki syndrome with a large palatal fistula and malocclusion

“…Because of mental retardation, in addition to having a cleft palate, language acquisition is often delayed, causing difficulties with communication [18,19]. In addition, occlusal abnormalities are observed because of jaw deformation derived from having a cleft palate, requiring orthognathic surgery.…”

Language Delay Revealing a Kabuki Syndrome: Case Report and Literature Review

“…Endocrine disorders are multiple, deficiency in growth hormone [23] is frequent, and it is to seek when we have short stature smaller than -3DS and recurrent hypoglycemia [24]. The occurrence of early puberty [25,26] is found in 25-43% of cases. Thyroid disorders (hypo-or hyperthyroidism) and the LH deficiency are possible but uncommon.…”