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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These disorders include Zellweger snydrome disorders, Smith-Lemli-Optiz syndrome, fetal alcohol syndrome, trisomies 18 and 12, Greenberg dysplasia, and chondrodysplasia punctata, tibia-metacarpal type. Mutations in the gene encoding 3-beta-hydroxysteroid-delta 8 ,delta 7 -isomerase cause X-linked dominant Conradi-Hunermann syndrome.

She had always been smaller than her peers, and spinal curvature, which had been recognized in early childhood, had progressed. CHILD syndrome, a rare genetic disorder that is apparent at birth congenitalis characterized by distinctive skin abnormalities and limb defects affecting one side of the body hemidysplasia.

The gene encodes a steroid dehydrogenase enzyme that also plays zyndrome role in cholesterol metabolism. 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. Three of the hunrrmann individuals were females: Thirteen of the mutations were novel. Orphanet encyclopedia, July Chondrodysplasia punctata, X-linked recessive type, is a form of chondrodysplasia punctata characterized by abnormal, symmetric, dotlike punctate calcifications within the growing ends of certain long bones i.


Evidence suggests that the greatest period of risk occurs conrdai approximately six to nine weeks following conception. Traupe recounted difficulties in mapping the gene for X-linked dominant chondrodysplasia punctata or, as he called it, Happle syndrome.

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Rhizomelic chondrodysplasia punctata RCDP syndeome are a group of rare disorders that are also classified as peroxisomal biogenesis disorders. X-linked dominant Conradi-Hunermann syndrome presenting as congenital erythroderma.

An unstable premutation would also explain the striking clinical variability of the phenotype, including stepwise increases in disease expression in successive generations.

The authors concluded that abnormal cholesterol biosynthesis is a characteristic of some syndromes with rhizomelic shortening and chondrodysplasia punctata. Corticosteroid including CAH aldosterone: However, as noted above, there is loss of distinctive epiphyseal stippling over time, potentially making diagnosis difficult. Mutations in a delta 8 -delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.

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

Rare Disease Database

A potential second allele of Td was described by Seo et al. Contrasting with the XXY male reported by Sutphen et al. By adulthood, she had a gross kyphoscoliosis and was cm in height, with relative truncal shortening. A gene mapped to this chromosomal region regulates production of an enzyme known as arylsulfatase E ARSE.


Additional features included coarse, dry hair with spotty scalp alopecia, mild nasal depression, mild midface flattening, and cutaneous linear streaky hypotrophy. For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.

Only after 5 months did the streaky hyperkeratotic pattern characteristic of the disorder appear. Aromatase deficiency Aromatase excess syndrome.

Conradi–Hünermann syndrome

Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata Happle syndrome. Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia. Human body cells normally have 46 chromosomes. In addition, CDP can be hunermwnn by maternal vitamin K deficiency or warfarin teratogenicity see No skeletal or ocular abnormalities were noted, and no neurologic abnormalities huenrmann reported.

However, since males have only one X chromosome, if they inherit a gene for a disease present on the X, it is more likely to be fully expressed.

One expects with an X-linked dominant male-lethal gene to find a ratio of 1: National Organization for Rare Disorders.