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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Investigators have determined that the EBP gene is located on the short arm p of the X chromosome Xp Color blindness red and green, but not blue Ocular albinism 1 Norrie disease Choroideremia Other: His survival was attributable to the presence of a 47,XXY karyotype. Orphanet encyclopedia, July Chondrodysplasia punctata was first described bunermann the medical literature by Drs.

Cataracts can caused blurred vision or decreased clarity of vision. 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 In fonradi cases, additional eye syndromd abnormalities include abnormally small eyes microphthalmosabnormally small corneas microcorneadown-slanting eyelid folds palpebral fissuresrapid, involuntary eye movements nystagmusand degeneration of the main nerve that transmits nerve impulses from the retina to the brain optic atrophy.

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

The sparse scalp hair may also be unusually coarse and lusterless. The coexistence of the 2 forms of skin change in the adult was unusual. X-linked dominant disorders are conditions caused by an abnormal gene on the X chromosome.


RCDP is characterized by bilateral and symmetric shortening of the upper long bone of the arms humerus and legs femura condition known as rhizomelia. Please consider making a hknermann now and again in the future.

Am J Med Genet. Chromosomal mapping and developmental study of Tattered-Hokkaido Tdho. A second possibility is that of metabolic interference as proposed by Johnson Infobox medical condition new All articles with unsourced statements Articles with unsourced statements from March Other treatment is symptomatic and supportive.

Functional X-chromosomal mosaicism of the skin: Mutations of this gene have been identified in several individuals with the disorder, suggesting that altered ARSE activity plays a causative role in the development of X-linked recessive chondrodysplasia punctata.

Conradi–Hünermann syndrome

Emopamil-binding protein functions as a sterolisomerase enzyme and plays a role in cholesterol biosynthesis. Laboratory studies showed increased levels of plasma 8-dehydrocholesterol and 8 9 -cholestenol.

In some cases, affected areas of the snydrome may be darker or lighter than surrounding areas hyper- and hypopigmentation. In many cases, this mutation occurs randomly, for no apparent reason i.

By hunefmann this site, you agree to the Terms of Use and Privacy Policy. The disorder is caused by deletions or chromosomal rearrangements translocations involving the end of the short arm p of chromosome X Xp The first girl presented in infancy with asymmetric limb shortening, flat face, saddle nose, and cataracts.

The mother was born with short femora and humeri, the left leg shorter than the right, saddle nose, frontal bossing, flexion contractures at the hips and knees, left talipes equinovarus and hyperkeratosis with erythema of the left side of the body. 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 preponderance of females, they actually observed a close-to-even sex ratio M: Heterozygous females are small and at 4 to 5 days of age develop patches of hyperkeratotic skin where no hair grows, resulting in a striping of the coat in adults Uwechue et al.


The fourth affected individual was a male in the second generation who was found to be severely affected but represented the first known male patient with X-linked dominant chondrodysplasia punctata see ‘Affected Males’ below.

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

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. Alone we are rare. Cataracts may be present at birth congenital or may develop during infancy. 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