Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Kabuki make-up syndrome is a rare dysmorphogenic disorder characterized by peculiar facial appearance (resembling the make-up of actors in Kabuki, the traditional Japanese theatre), skeletal anomalies, dermatoglyphic abnormalities, postnatal growth deficiency, and mental retardation. Central nervous system dysfunctions, other than mental retardation, are rarely reported; they include microcephaly, brachycephaly, early hypotonia, feeding disorders, subatrophy of the optic nerves, subarachnoid cyst, cerebellar and brainstem atrophy, and epilepsy. These manifestations appear to be more common in non-Japanese patients. Reported is an Italian child with phenotypical appearance of Kabuki make-up syndrome and partial epilepsy who demonstrated polymicrogyria on neuroimaging. This article is the first report of a gyration disorder in Kabuki make-up syndrome. The relationship between epilepsy and polymicrogyria in this patient is discussed.
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PMID:Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome. 1046 45

The Kabuki syndrome is characterized by mental retardation (mild-to-moderate), skeletal anomalies, typical facial appearance and post-natal growth deficiency. The authors describe two patients with Kabuki syndrome and proven growth hormone deficiency. The first patient has been on GH replacement therapy for 4 years; the second for 11 years. On the basis of a sufficiently long follow-up period the Authors discuss the advisability of replacement therapy with growth hormone in patients with Kabuki syndrome.
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PMID:Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency. 1082 92

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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PMID:Unexpected life-threatening complications in Kabuki syndrome. 1098 74

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 systems with a broad spectrum of abnormalities. The facial features of the syndrome are specific and independent of ethnic origin. In addition to presenting with endocrine problems, the patients reported here exhibit some novel findings such as congenital alopecia areata and hyperpigmented skin lesion. The diagnosis of Kabuki syndrome should be considered in patients with hypoglycemia or premature thelarche when associated with developmental delay and a peculiar facies.
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PMID:Two patients with Kabuki syndrome presenting with endocrine problems. 1130 2

We report a 10-year-old boy with multiple congenital anomalies/mental retardation syndrome, who also presented with aganglionosis and neurogenic muscle weakness. Some phenotypic manifestations of our patient overlap with those observed in the Niikawa-Kuroki syndrome; however, the hypothesis of a new distinct entity, with simultaneous involvement of the central and peripheral nervous system, is considered.
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PMID:Facial and skeletal malformations, mental retardation, aganglionosis, and neurogenic muscle weakness: a variant of Niikawa-Kuroki syndrome or a new syndrome? 1133 67

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 cardiovascular 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.
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PMID:Kabuki make-up syndrome: a review. 1256 Oct 59

Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome which often involves recurrent infections. There is cumulative evidence of an immunodeficiency in Kabuki patients. We report a 2-year-old girl with typical Kabuki syndrome, who developed acute lymphocytic leukemia. The patient showed low levels of immunoglobulins G and A and a history of recurrent infections, that might indicate an immunodeficiency leading to an increased susceptibility to cancer. The girl was treated according to BFM protocols adapted to the patient's impaired cardiac situation and severe underweight. She achieved continual complete remission. Classical and molecular cytogenetic analyzes did not detect any abnormality.
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PMID:Patient with Kabuki syndrome and acute leukemia. 1294 77

Kabuki make-up syndrome is a mental retardation-malformation syndrome affecting multiple organ systems, with a broad spectrum of neuromuscular dysfunction and mental ability. The incidence of seizures associated with this syndrome ranges from 10 to 40%. However, details of the seizures in this syndrome have not been adequately reported or thoroughly evaluated. In this study, we analyzed seizure characteristics and clinical outcomes in nine patients with Kabuki make-up syndrome. Four patients had generalized seizures and two patients had complex partial seizures, extended to secondary generalized seizures. West's syndrome, complex partial seizure, and atonic seizure were seen in one case each, respectively. Electroencephalograms showed focal spikes in seven cases, diffuse spike and wave burst in one case, and hypsarrhythmia in one case. Seizures were well controlled in eight cases and incompletely controlled in only one case. Together with mental retardation, epilepsy can be a primary feature of Kabuki make-up syndrome. Epilepsy associated with Kabuki make-up syndrome is mainly localization-related epilepsy with a favorable seizure outcome.
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PMID:Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy. 1367 81

Kabuki syndrome (KS) is a multiple congenital anomalies/mental retardation syndrome that heretofore has had an unknown etiology. Although several cases with KS features have been reported with different chromosome anomalies, none have had an autosomal cytogenetic aberration in common. We found an 8p22-8p23.1 duplication, using comparative genomic hybridization (CGH) in six unrelated patients diagnosed with KS. This observation was confirmed using BAC-FISH in all cases that delimited the duplicated region to approximately 3.5 Mb. No duplication of this region was found in two parents or 20 controls by either CGH or BAC-FISH. Two out of two mothers of KS patients and one out of 20 controls were found to have a heterozygous submicroscopic inversion at 8p23.1. As the six patients with KS represent different races, this duplication may represent a common etiologic basis for this disorder.
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PMID:Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. 1833 87

The Niikawa-Kuroki syndrome is a rare syndrome characterized by multiple congenital anomalies, mental retardation, postnatal growth deficiency, dermatoglyphic abnormalities and a characteristic facial appearance. More than 100 cases of the syndrome have been described in Europe. Here we report a 10 year old girl with this syndrome. Recurrent infections of the middle ear as well as delayed motor and speech development were present. The physiognomy since early infancy showed a flat profil, long palpebral fissures, long eyelashes, high arched eyebrows, missing lateral incisors and persistent fetal pads on the fingers. The patient was referred to us because of hearing impairment. Her parents also described a delayed motor development, mental retardation and a language impairment. Audiometry demonstrated a pantonal hearing loss. Since children affected by this syndrome may also have a severe hearing impairment early testing is mandatory.
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PMID:[Niikawa-Kuroki (Kabuki) syndrome and hearing impairment]. 1513 52


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