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)

The wrinkly skin syndrome is an autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, multiple musculoskeletal abnormalities, microcephaly, and mental retardation. Our patient is characteristic of the syndrome as previously described, and confirms the presence of mental retardation and microcephaly as component manifestations, with the additional findings of connective tissue abnormalities evidenced by an atrial septal aneurysm.
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PMID:Wrinkly skin syndrome: phenotype and additional manifestations. 332 93

We report the cases of a mother and her two sons with del(2) (q32). Their phenotypes are compared with those of 20 individuals reported previously in the literature. All described cases apparently have identical deletions. Common manifestations include small size at birth, retarded growth and development, cranio-facial dysmorphism and skeletal and ocular anomalies. Our patients also have symptoms of the wrinkly skin syndrome (WSS), which is characterized by the wrinkling of the abdominal skin and of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, musculoskeletal anomalies, microcephaly, mental retardation and an old appearance. Our three patients show a striking pattern in skin biopsies when viewed by light microscopy, and a peculiar grimacing was noted in the boys. Their serum copper and caeruloplasmin levels are slightly raised.
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PMID:Del(2q)--cause of the wrinkly skin syndrome? 850 Feb 59

The microdeletion 4p16 has been found in two rare syndromes. Until now they were considered as two different syndromes: the Wolf-Hirschhorn syndrome (WHS) and the Pitt-Rogers-Danks (PRDS) syndrome characterized by a growth retardation before and after birth, microcrania, seizures, characteristic face with thin mouth, maxillary hypoplasia, short and large philtrum, characteristic nose and mental retardation. A case with 4p-16 microdeletion with phenotype characteristics similar to PRDS is reported. The patients described as PRDS are sometimes less seriously affected than patients with WHS. In fact, cases of death are not indicated in the first year of life, internal malformations are less frequent and the face lacks the typical Greek warrior helmet Recent studies have shown that WSS and PRDS are due to the absence of similar if not identical genetic segments and the clinical differences observed could be the outcome of an allele variation on the remaining homologous part.
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PMID:The 4P-syndrome. Case description and literature review. 1130 39

Cutis laxa is a connective tissue disorder caused by deficiency of fibro elastic plexus, which can involve multiple organs. It is inherited in autosomal dominant, autosomal recessive, and X-linked. Autosomal recessive cutis laxa type 2, which appears to compromise a spectrum of disorders, starts with severe wrinkly skin syndrome and leads to more severe diseases related to growth and developmental delays and skeletal anomalies. The clinical manifestations in some of cases of Cutis laxa consist of redundant loose skin, pre-and post-natal growth deficiency, mental retardation, large fontanels, and dislocation of the hips. The authors present the case of a female patient with involved internal organ disorder and delay in growth in addition to skin laxity in which gene sequence analysis of PYCR1 indicated C.797G>A mutation.
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PMID:Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report. 2651 48