Abstract. X-linked dominant chondrodysplasia punctata, (CDPX2 – MIM ) also known as Conradi-. Hünermann-Happle syndrome, is a rare form of. X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females. Although the. Minerva Pediatr. Mar;45(3) [Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature ].
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Ichthyotic and psoriasiform skin lesions along Blaschko’s lines in a woman with X-linked dominant chondrodysplasia punctata.
Because the disorder is inherited as an X-linked recessive trait, it is typically fully expressed in males only. Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital. However, males could receive conraddi transmit the abnormal gene but could not exhibit the abnormal phenotype.
Osteochondroma osteochondromatosis Hereditary multiple exostoses.
Expert curators review the literature and organize it to facilitate your work. Other symptoms can be treated with medicine or surgery. She did not manifest cataracts, polydactyly, scoliosis, or asymmetric limb shortening. All studies receiving U. Additional characteristic findings may include sparse, unruly hair; ichthyosis, primarily over the neck, on the chest, under the arms, and on the backs of the legs; and underdevelopment of the nose nasal hypoplasia. The EBP gene creates a protein known as emopamil-binding protein.
Orphanet encyclopedia, July From Wikipedia, the free encyclopedia.
OMIM Entry – # – CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2
TEXT A number sign is used with this entry because X-linked dominant chondrodysplasia punctata-2 CDPX2 is caused by mutation in the gene encoding delta 8 -delta 7 sterol isomerase emopamil-binding protein EBP; on chromosome Xp About News Events Contact. The gene mutation is inherited as an X-linked dominant trait.
Happle reviewed 35 cases, all female. The mouse X-linked developmental mutant, tattered, lies between DXMit55 and Xkh and is associated with hyperkeratinization. According to investigators, some cases of the disorder appear to result from different mutations of the same gene i. They considered 3 mechanisms that might explain the apparent exclusion of the X-linked gene from the X chromosome by linkage analysis. syndrkme
X-linked dominant Conradi-Hunermann syndrome presenting as congenital erythroderma. Unfortunately, it is not free to produce. He also had patchy alopecia of the scalp and follicular atrophoderma of the knees. In the 3 kindreds studied, only females were affected in successive generations. Infobox medical condition new All articles with unsourced statements Articles with unsourced statements from March Dominant sex-linked inherited chondrodysplasia punctata: In the case of the infant there had been no maternal exposure to embryopathic agents, and, in particular, no warfarin therapy had been given.
Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Functional X-chromosomal mosaicism of the skin: Growth deficiencies may ultimately result in a final adult height that is below normal short stature. Chromosomes are further sub-divided into many bands that are numbered. The sparse scalp hair may also be unusually coarse and lusterless.
Human body cells normally have 46 chromosomes. Mutations of the EBP gene result in the accumulation of sterols in the plasma and certain tissues of the body. Disorders of cholesterol biosynthesis: Elsevier Saunders, Philadelphia, PA; Half chromatid mutations may explain incontinentia pigmenti in males.
Additional findings include distinctive facial features, the formation of small, hardened spots of calcium stippling on the knee cap patella and long bones of the arms and legs chondrodysplasia punctatacataracts that are present at birth or shortly thereafter, profound growth deficiency after birth, mental retardation, and seizures.
They found abnormal plasma or tissue sterol profiles characterized by increased levels of 8-dehydrocholesterol and 8 9 -cholestenol, suggesting a deficiency of 3-beta-hydroxysteroid-delta 8 ,delta 7 -isomerase, a principal enzyme of cholesterol biosynthesis.
The authors concluded that abnormal cholesterol biosynthesis is a characteristic of some syndromes with rhizomelic shortening and chondrodysplasia punctata.
Rhizomelic chondrodysplasia punctata RCDP spectrum are a group of rare disorders that are also classified as peroxisomal biogenesis disorders. The mother of 1 of the patients had bone dysplasia consistent with the X-linked dominant syndromw of chondrodysplasia punctata. Radiographs showed generalized punctate calcifications of the epiphyseal regions of long bones, vertebrae, and the pelvic bone.
The coexistence of the 2 sjndrome of skin change in the adult was unusual. Affected females had typical skin manifestations and all but 1 had skeletal dysplasia.
Years Published, Please consider making a donation now and again in the future. His survival was attributable to the presence of a 47,XXY karyotype.
Conradi Hünermann Syndrome – NORD (National Organization for Rare Disorders)
Three of the affected individuals were females: Psoriasiform skin changes became evident for the first time during adulthood. CC HPO: In the newborn period, many affected infants also have redness erythema and unusual thickening, dryness, and scaling of the skin ichthyosiform erythroderma distributed in a linear, blotchy pattern over the body. There were atrophic linear skin lesions following the lines of Blaschko mostly on the extremities.
Such nonpenetrant males would be scored as recombinants.