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 (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 make-up syndrome (KMS; OMIM#147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause, first described independently by Niikawa and Kuroki. It is characterized by a peculiar facial appearance, mild to moderate mental retardation, skeletal abnormality, joint laxity, short stature, and unusual dermatoglyphic patterns. Several additional malformations (eg, cleft palate), cardiovascular defects, genitourinary and gastrointestinal tract anomalies, otologic and ophthalmologic abnormalities, and recurrent infections are also frequently present. It is mostly sporadic, although some familial cases have been reported. Inheritance is thought to be autosomal dominant or X-linked recessive; several chromosomal abnormalities have been found, but none of them seems to be specific to KMS. The fact that the majority of patients are sporadic and show a wide spectrum of clinical features rules out the hypothesis that KMS is a condition with a microdeletion involving several contiguous genes. We recently observed an Italian boy with typical KMS associated with cutis laxa, which, to our knowledge, is an uncommon finding in KMS, never reported in more than 350 KMS cases previously described in the literature.
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PMID:Cutis laxa in Kabuki make-up syndrome. 1622 1

Kabuki make-up syndrome KMS is a rare condition with a number of characteristic congenital abnormalities. The syndrome is characterized by peculiar facial appearance resembling the make-up of actors in Kabuki, the traditional Japanese theater, skeletal anomalies, dermatoglyphic abnormalities, postnatal growth deficiency, and mental retardation. These are rare reports of central nervous system dysfunctions, other than mental retardation, and no previously described congenital talipes calcaneo-valgus in this syndrome. We report the case of a 22-month-old girl having Kabuki make-up. At presentation, she had an adenoid hypertrophy and a history of recurrent otitis media. She had also delay in motor development, and a postnatal growth deficiency. The variable phenotypic expression is a well-known characteristic of the syndrome. For that reason, we should perform careful morphologic examination in every patient and their parents, and use flexotype laryngoscope Heine, Germany to visualize vocal cord in case of difficult intubation. At preoperative examination, as clinicians, we must be careful regarding patient morphology. Congenital heart defects and epilepsy are important for anesthesia management in KMS.
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PMID:Anesthesia management in Kabuki make-up syndrome. 1638 Jul 86