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 ].

Author: Maum Tetaur
Country: Congo
Language: English (Spanish)
Genre: Travel
Published (Last): 5 June 2016
Pages: 281
PDF File Size: 8.96 Mb
ePub File Size: 16.37 Mb
ISBN: 795-2-49805-379-3
Downloads: 27357
Price: Free* [*Free Regsitration Required]
Uploader: Taran

Chondrodysplasia punctata tends to resolve on its own within the first few years of life.

Conradi–Hünermann syndrome

The mouse X-linked developmental mutant, tattered, lies between DXMit55 and Xkh and is associated with hyperkeratinization. Unfortunately, it is not free to produce.

In many cases, this mutation occurs randomly, for no apparent reason i. In addition, CDP can be caused by maternal vitamin K deficiency or warfarin teratogenicity see The synddome lived only 1 hour. 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.

Years Published, The distal end of hinermann left ulna was dysplastic, as was the right femoral head.

Rare Disease Database

Inborn errors of hunrmann metabolism. Usually in X-linked dominant chondrodysplasia punctata, punctate epiphyseal calcifications and ichthyotic skin lesions are both transient, resolving during early infancy. Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata. Her mother, who also carried the mutation, had sparse hair and atrophic linear skin lesions following the lines of Blaschko.

Clinical Synopsis Toggle Dropdown. Spondyloepiphyseal dysplasia congenita Multiple shndrome dysplasia Otospondylomegaepiphyseal dysplasia.


Mutations of the EBP gene result in deficient levels of functional copies of this protein. Because the disorder is inherited as an Hunermxnn recessive hunermanm, it is typically fully expressed in males only. Osteochondrodysplasia Q77—Q78 See, and for possible autosomal dominant forms of CDP.

Comparisons may be useful for a differential diagnosis. It is associated with the EBP gene [3] [4] and affects between one inand one inbabies.

The location of the Bpa gene in the mouse suggested that the human counterpart is in the Xq28 region. Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital.

Whittock NV, Izatt L.

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

Only after 5 months did the streaky hyperkeratotic pattern characteristic of the disorder appear. A potential second allele of Td was described by Seo et al. Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata Happle syndrome. This hypothesis would suggest that only females manifest the disorder and that it would segregate in a manner mimicking X-linked dominant transmission.

This page was last edited on 30 Julyat By using this site, you agree to the Terms of Use and Privacy Policy. Traupe recounted difficulties in mapping the gene for X-linked dominant chondrodysplasia punctata or, as he called it, Happle syndrome. These disorders include other forms of ichthyosis. Happle reviewed 35 cases, all female.

Functional X-chromosomal mosaicism of the skin: The infant died at approximately 1 hour of age. There were atrophic linear skin lesions following the lines of Blaschko mostly on the extremities.

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

Haemophilia A Haemophilia B X-linked sideroblastic anemia. The exact incidence of the disorder in the general population is unknown, although one estimate places it at 1 inindividuals. For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database. The disorder studied by Ryan et al. His survival was attributable to the presence of a 47,XXY karyotype. The specific symptoms and severity of the disorder may vary greatly from one individual to another.


The disorder is often apparent at birth congenitalbut some individuals with mild cases may not be indentified until adulthood. Half chromatid mutations may explain incontinentia pigmenti in males. Affected males are extremely rare and the clinical features in males almost always result from postzygotic mosaicism for an EBP mutation summary by Aughton et al. The sparse scalp hair may also be unusually coarse and lusterless.

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual.

Multiple recombinations hunermannn to exclude the Xq28 region as the site of the gene. In the 3 kindreds studied, only females were affected in successive generations. Genodermatoses Skeletal disorders Syndromes affecting the skin Cholesterol and steroid metabolism disorders Rare syndromes. In some cases, affected areas of the skin may be darker or lighter than surrounding areas hyper- and hypopigmentation.

Genetic counseling may be of benefit for affected individuals and their families. Investigators have determined that the EBP gene is located on the short arm p of the X chromosome Xp Osteochondroma osteochondromatosis Hereditary multiple exostoses. Two of their mothers showed a mild form of cicatricial alopecia.