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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Most female patients with the syndrome can live a long and normal life, while males have only survived in rare cases. XXY male with X-linked dominant chondrodysplasia punctata Happle syndrome. Clinical Synopsis Toggle Dropdown. Eyndrome of their mothers showed a mild form of cicatricial alopecia. We are determined to keep this website freely accessible.

Expert curators review the literature and organize it to facilitate your work. The gene encodes a steroid dehydrogenase enzyme that also hubermann a role in cholesterol metabolism. Ichthyotic and psoriasiform skin lesions along Blaschko’s hunwrmann in a woman with X-linked dominant chondrodysplasia punctata.

Surprisingly, multiple crossovers were also found with 26 other markers distributed over the rest of the X chromosome. Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital. Because of presumed homology to the mouse mutant ‘bare patches,’ on Xq28, they tested for linkage in that region and excluded it.

The distal end of the left ulna was dysplastic, as was the right femoral head. Information on current clinical trials is posted on the Internet at www. On reexamination of the pedigree, they hnermann that in contrast to their expectation of a gene that is lethal for hemizygous males and thus results in a preponderance of females, they actually observed a close-to-even sex ratio M: Other treatment is symptomatic and hunegmann.

Genodermatoses Skeletal disorders Syndromes affecting the skin Cholesterol and steroid metabolism disorders Rare syndromes.


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

Rudolf Happle and the lines of Alfred Blaschko. New York, NY; By using this site, you agree to the Synfrome of Use and Privacy Policy. 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.

Such features commonly include asymmetric shortening cinradi long bones of the limbs, particularly those of the upper arms humeri and the thigh bones femoracausing disproportionate length of the arms hunerman legs with one side typically more affected than the other. None of the mutations were identical to those found by Derry et al. The pathognomonic dermatologic findings in the children included erythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life.

The gene mutated in bare patches and striated mice encodes a novel 3-beta-hydroxysteroid dehydrogenase.

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

This page was last edited on 30 Julyat Elsevier Saunders, Philadelphia, PA; The EBP gene creates a protein known as emopamil-binding protein. It is important to note hunerann affected individuals may not have all of the symptoms discussed conadi.

Dominant sex-linked inherited chondrodysplasia punctata: Only after 5 months did the streaky hyperkeratotic pattern characteristic of the disorder appear. Mutations of the EBP gene result in the accumulation of sterols in the plasma and certain tissues of the body. A potential second allele of Td was described by Seo et al. The linkage of the gene seemed to be excluded for the entire X chromosome by 2-point linkage analysis.

Affected individuals also frequently have abnormal sideways and, in some cases, front-to-back curvature of the spine scoliosis or kyphoscoliosis. Metabolic interference would predict that all daughters of a nonpenetrant male gene carrier would be affected; transmission of the gene via an unaffected male has not been observed in the families with Happle syndrome.

Two-point linkage analysis and analysis of recombination chromosomes seemed to exclude the gene from the entire X chromosome. In rare cases, intellectual disability may also be present.

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Syyndrome second girl first presented at age 13 years. Disorders of cholesterol biosynthesis: Human body cells normally have 46 chromosomes. Functional X-chromosomal mosaicism of the skin: Gonadal mosaicism may be suspected when apparently unaffected parents have more than one child with the same genetic abnormality. Traupe recounted difficulties in mapping the gene for X-linked dominant chondrodysplasia punctata or, as he called it, Happle syndrome.

Conradi–Hünermann syndrome

Vertebral wedging was maximal in the lower thoracic spine. In the 3 kindreds studied, only females were affected in successive generations. In conraci, CDP can be caused by maternal vitamin K deficiency or warfarin teratogenicity see By adulthood, she had a gross kyphoscoliosis and was cm in height, with relative truncal shortening.

Investigators have determined that the EBP gene is located on the short arm p of the X chromosome Xp 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.

The phenotype had syndrone features consistent with lyonization. Laboratory studies showed increased levels of plasma 8-dehydrocholesterol and 8 9 -cholestenol. Scientists are hunermnan trying to understand exactly where the mutation occurs so that they can correct it.

Although the eruption usually resolves during infancy, older children may subsequently develop inflammation and wasting atrophy of follicles follicular atrophodermacausing pores to appear unusually large. Family members bore other stigmata including patchy cicatricial alopecia, coarse hair, follicular atrophoderma, frontal bossing, cataracts, short stature, and short proximal limbs.