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: Gam Zolobar
Country: Central African Republic
Language: English (Spanish)
Genre: Relationship
Published (Last): 6 March 2016
Pages: 490
PDF File Size: 3.71 Mb
ePub File Size: 2.87 Mb
ISBN: 870-8-80285-833-9
Downloads: 32241
Price: Free* [*Free Regsitration Required]
Uploader: Goltijin

Skin markers of X-linked dominant chondrodysplasia punctata.

The sparse scalp hair may also be unusually coarse and lusterless. Together we are strong.

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

Thirteen of the mutations were novel. Milder forms of RCDP have been identified in which affected individuals have less severe mental deficits and growth deficiency and often no rhizomelia.

Such cases include rare instances in which more than one child of apparently unaffected parents have the disorder. The second girl first presented at age 13 years. Abnormal stiffness of the syndroke or joints that are fixed or locked in a bent position flexion contractures may also occur. Chondrodysplasia punctata, X-linked dominant. The pathognomonic dermatologic findings in the children included erythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life.

Such features commonly include asymmetric shortening of long bones of the limbs, particularly those of the upper arms humeri and the thigh bones femoracausing disproportionate length of the arms and legs with one side typically more affected than the other.


Multiple recombinations appeared to exclude the Xq28 region as the site of the gene. Unfortunately, it is not free to produce. Dominant sex-linked inherited chondrodysplasia punctata: The development of these abnormal calcified spots may also be known as chondrodysplasia punctata.

This explanation would account for the unexpected sex ratio M: CDPX2 patients display skin defects including linear or comradi 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. 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.

Lethal non-rhizomelic dysplasia epiphysealis punctata.

Rare Disease Database

Usually in X-linked dominant chondrodysplasia punctata, punctate epiphyseal calcifications and ichthyotic skin lesions are both transient, resolving during early hunermanm.

We are determined to keep this website freely accessible. From Wikipedia, the free encyclopedia. Chondrodysplasia punctata tends to resolve on its own within the first few years of life. Rhizomelic chondrodysplasia punctata RCDP spectrum are a group of rare disorders that are also classified as peroxisomal biogenesis disorders. No correlation between the nature of the mutation and the phenotype was evident. Although Sutphen et al.


Am J Med Genet. CC HPO: The location of the Bpa gene in the mouse suggested that the human counterpart is in the Xq28 region.

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

Years Published, Cerebral involvement does not seem to occur. The distal end of the left ulna was dysplastic, as was the right femoral head. 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. 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.

Disorders of cholesterol biosynthesis: Affected individuals also frequently have abnormal sideways and, in some cases, front-to-back curvature of the spine scoliosis or kyphoscoliosis. Epilepsy and mental retardation limited to females: Surgery may also be advised for certain craniofacial malformations, scoliosis or other physical abnormalities.

Affected Males Sutphen et al.