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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Haemophilia A Haemophilia B X-linked sideroblastic anemia. Affected individuals also hunermaann have abnormal sideways and, in some cases, front-to-back curvature of the spine scoliosis or kyphoscoliosis. In some cases, affected areas of the skin may be darker or lighter than surrounding areas hyper- and hypopigmentation. X-linked dominant chondrodysplasia punctata: She did not manifest cataracts, polydactyly, scoliosis, or asymmetric limb shortening. Osteochondroma osteochondromatosis Hereditary multiple exostoses.

Florida Zoo Gives Girl with Conradi-Hünermann Syndrome an Unforgettable Day

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 hunermwnn, mental retardation, and seizures. X-linked ichthyosis Antley—Bixler syndrome.

Chromosomal mapping and developmental study of Tattered-Hokkaido Tdho. Mutations of the EBP gene result in the accumulation of sterols in the plasma and certain tissues of the body. Ichthyotic and psoriasiform skin lesions along Blaschko’s lines in a woman with X-linked dominant chondrodysplasia punctata. Inborn errors of steroid metabolism. Investigators have determined that the EBP gene is located on the short arm p of the X chromosome Xp Chondrodysplasia punctata, X-linked recessive type, is a form of chondrodysplasia punctata characterized by abnormal, symmetric, dotlike punctate calcifications within the growing ends of certain long bones i.

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For more information on these disorders, choose the specific synvrome name as your search term in the Rare Disease Database.

The exact incidence of the disorder in sydnrome general population is unknown, although one estimate places it at 1 inindividuals. Additional distinctive facial features may occur in some cases including an unusually prominent forehead frontal bossingflattened cheekbones malar hypoplasiaa flattened bridge of the nose, upturned nostrils anteverted nares and malformed dysplastic ears. Such nonpenetrant males would be scored as recombinants.

Conradi Hünermann Syndrome – NORD (National Organization for Rare Disorders)

No skeletal or ocular abnormalities were noted, and no neurologic abnormalities were reported. The disorder is often apparent at birth congenitalbut some individuals with mild cases may not be indentified until adulthood. On reexamination of the pedigree, they realized that in contrast to their expectation of a gene that is lethal for hemizygous males and thus results in a syndgome of females, they actually observed a close-to-even sex ratio M: Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.

The development of these abnormal calcified spots may also be known as chondrodysplasia punctata. The X-linked recessive form is clinically mild but has cerebral involvement.

Conradi-Hünermann | Foundation for Ichthyosis & Related Skin Types, Inc.

CC HPO: Osteochondrodysplasia Q77—Q78 The coexistence of the 2 forms sundrome skin change in the adult was unusual. The infant died at approximately 1 hour of age.

The second girl first presented at age 13 years.

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.

Mutations in a delta 8 -delta 7 sterol isomerase in the uhnermann mouse and X-linked dominant chondrodysplasia punctata. By using this site, you agree to the Terms of Use and Privacy Policy.


Usually in X-linked dominant chondrodysplasia punctata, punctate epiphyseal calcifications and ichthyotic skin lesions are both transient, resolving during early infancy. The location of the Bpa gene in the mouse suggested that the human counterpart is in the Xq28 region. Mutations of the EBP gene result in the accumulation of sterols in the plasma and certain tissues of syndrmoe body.

A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. In rare cases, additional eye ocular abnormalities include abnormally small eyes microphthalmosabnormally small corneas microcorneadown-slanting eyelid folds palpebral fissureshunemann, involuntary eye movements nystagmusand degeneration of the main nerve that transmits nerve impulses from the retina to the brain optic atrophy.

Hunter syndrome Purine—pyrimidine metabolism: Fitzpatrick’s Dermatology in General Medicine. Infobox medical condition new All articles with unsourced statements Articles with unsourced statements from March CDPX2 patients display skin defects including linear or whorled atrophic and pigmentary lesions, striated hyperkeratosis, coarse lusterless hair and alopecia, cataracts, and skeletal abnormalities including short stature, rhizomelic shortening of the limbs, epiphyseal stippling, and craniofacial defects Derry et al.

This hypothesis would suggest that only females manifest the disorder and that it would segregate in a manner mimicking X-linked dominant transmission.

Investigational Therapies Information on current clinical trials is posted on the Internet at www. Thirteen of the mutations were novel. Homologous genes for X-linked chondrodysplasia punctata in man and mouse.