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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This affected male died at age 31 years due to restricted pulmonary disease secondary to severe kyphoscoliosis. Craniofrontonasal dysplasia CFND; is another X-linked dominant disorder in which females are consistently affected more severely than males, although male carriers show some phenotypic abnormalities Kapusta et al.

Later, patterned ichthyosis, follicular atrophoderma, coarse lusterless hair, and cicatricial alopecia become evident. Clinical Synopsis Toggle Dropdown.

A second possibility is cconradi of metabolic interference as proposed by Johnson Affected infants may fail to grow and gain weight at the rate expected for age and gender failure to thrive. Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital.

The infant died at approximately 1 hour of age. X-linked ichthyosis Antley—Bixler syndrome. By using this site, you agree to the Terms of Hunerjann and Privacy Policy. Alone we are rare.

The disorder is often apparent at birth congenitalbut some individuals with mild cases may not be indentified until adulthood. Cataracts can caused blurred vision or decreased clarity of vision.

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

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. Mutations in a delta 8 -delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.


Enzymes are proteins that increase the rate of certain chemical reactions in the body. He also had patchy cicatricial alopecia, right cataract, and right esotropia. CHILD syndrome, a rare genetic disorder that is apparent at birth congenitalis characterized by distinctive skin abnormalities and limb defects conrwdi one side of the body hemidysplasia.

Multiple recombinations appeared to exclude the Xq28 region as the site of the gene. His survival was attributable to the presence of a 47,XXY karyotype.

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

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. X-linked dominant chondrodysplasia punctata CDPX2 caused by single gene mosaicism in a male.

Other treatment is symptomatic and supportive. Although Sutphen et al. Please consider making a donation now and again in the future. Skin markers of X-linked dominant chondrodysplasia punctata.

Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia.

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

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

Sterol levels are measured by gas chromatography-mass spectrometry. One expects with an X-linked dominant male-lethal gene to find a ratio of 1: Syndromr fourth affected individual was a male in the second generation ysndrome was found to be severely affected but represented the first known male patient with X-linked dominant chondrodysplasia punctata see ‘Affected Males’ below.


It is important to note that affected individuals may not have all of the symptoms discussed below. The phenotype of Td is similar to that seen in heterozygous conrradi with human X-linked dominant chondrodysplasia punctata as well as another X-linked semidominant mouse mutation, ‘bare patches’ Bpa. Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. The left fourth metacarpal was short. Abnormal stiffness of the joints or joints that are fixed or locked in a bent position flexion contractures may also occur.

Functional X-chromosomal mosaicism of the skin: Although the eruption usually resolves during infancy, older children may subsequently develop inflammation and wasting atrophy of follicles follicular atrophodermacausing pores to appear unusually large. A potential second allele of Td was described by Seo et al. Thirteen of the mutations were novel.

The son lived only 1 hour. Conradl first girl presented in infancy with asymmetric limb shortening, flat face, saddle nose, and cataracts. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. None of the mutations were identical to those found by Derry et al. Scientists are still trying to understand exactly where the mutation occurs so that they can correct it.