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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In rare cases, intellectual disability may also be present. Whittock NV, Izatt L.

Disorders of cholesterol biosynthesis: Am J Med Genet. 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.

Corticosteroid including CAH aldosterone: Surprisingly, multiple crossovers were also found with 26 other markers distributed over the rest of the Nunermann chromosome.

The location of the Bpa gene in the mouse suggested that the human counterpart is in the Xq28 region. A number sign is used with this entry because X-linked syndroke 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 The phenotype had mosaic features consistent with lyonization. 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 condadi of females, they actually observed a close-to-even sex ratio M: The vertebral bodies above and below this region were found to be comparatively normal.

Rare Disease Database

Two of their mothers showed a mild form of cicatricial alopecia. The disorder studied by Ryan et al. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions. Sterol levels are measured by gas chromatography – mass spectrometry.

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CDPX2 arises almost exclusively in females and is usually lethal in males. Biosynthesis is the building or conversion of complex chemical compounds from simple substances in the body.

The first girl presented in infancy with asymmetric limb shortening, flat face, saddle nose, and cataracts. He did not have cataracts, and cognition was normal. National Organization for Rare Disorders. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual.

He also had patchy alopecia of the scalp and follicular atrophoderma of the knees.

The development of these abnormal calcified spots may also confadi known as chondrodysplasia punctata. Affected individuals also frequently have abnormal sideways and, in some cases, front-to-back curvature of the spine scoliosis or kyphoscoliosis.

OMIM is hunermamn for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. Mutations of the EBP gene result in the accumulation of sterols in the plasma and certain tissues of the body. Affected females had typical skin manifestations and all but 1 had skeletal dysplasia.

Affected Males Sutphen et al. It is associated with the EBP gene [3] [4] and affects between one inand one inbabies. We need long-term secure funding to provide you the conrradi that you need at your fingertips.

Scientists are still trying to understand exactly where the mutation occurs so that they can correct it. The gene encodes a steroid hunermabn enzyme that also plays a role in cholesterol metabolism.

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

Although Sutphen et al. CC HPO: The disorder is caused by deletions or chromosomal rearrangements translocations involving the end of the short arm p of chromosome X Xp In some cases, eye abnormalities can significantly reduce vision.

Some affected infants are prone to developing repeated infections. Because of presumed homology to the mouse mutant ‘bare patches,’ on Xq28, they tested for linkage in that region and excluded it. Genodermatoses Skeletal disorders Syndromes affecting the skin Cholesterol and steroid metabolism disorders Rare syndromes.

Later, patterned ichthyosis, follicular atrophoderma, coarse lusterless hair, and cicatricial alopecia become evident. She had hyperkeratotic brownish plaques on the lower extremities following the lines of Blaschko and generalized brownish scales sparing the scalp, face, palms, soles, and inguinal area. Patchy areas of hair loss and scarring may develop on the scalp cicatricial alopecia. No skeletal or ocular abnormalities were noted, and no neurologic abnormalities were reported.

Spondyloepiphyseal dysplasia congenita Multiple epiphyseal dysplasia Otospondylomegaepiphyseal dysplasia. Raine syndrome Osteopoikilosis Osteopetrosis. 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.

Happle and Kuchle pictured a sectorial cataract in a woman with X-linked dominant chondrodysplasia punctata and proposed that this reflected lyonization.

Multiple recombinations appeared to exclude the Xq28 region as the site of the gene.