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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CDPX2 arises almost exclusively in females and is usually lethal in males. The disorder studied by Ryan et al.

Rare Disease Database

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. She had hyperkeratotic brownish plaques on the lower extremities following the lines of Blaschko and generalized brownish hnuermann sparing the scalp, face, palms, soles, and inguinal area.

Cartilage is a tough, elastic type of connective tissue that provides cushion cnradi structure within the body. X-linked dominant Conradi-Hunermann syndrome presenting as congenital erythroderma.

For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.

Corticosteroid including CAH aldosterone: In addition to radiographic stippling, the disorder is characterized by rhizomelic shortness, transient congenital ichthyosis following the lines of Blaschko, patchy alopecia, cataracts, and midface hypoplasia. The mother was born with short femora and humeri, the left leg shorter than the right, saddle nose, frontal bossing, flexion contractures at the hips and coonradi, left talipes equinovarus and hyperkeratosis with erythema of the left side of the body.

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


Conradi–Hünermann syndrome – Wikipedia

Contrasting with the XXY male reported by Sutphen et al. National Organization for Rare Disorders. Mutations of the EBP gene result in the accumulation of sterols in the plasma and certain tissues of the body. The gene encodes a steroid dehydrogenase enzyme that also plays a role in cholesterol metabolism. Together we are strong.

Cataracts can caused blurred vision or decreased clarity of vision. Achondrogenesis type 2 Hypochondrogenesis. It is important to note that affected individuals may not have all of the symptoms discussed below. A firm diagnosis would not have been possible on the basis of the radiologic findings in the mother alone.

Sterol levels hunefmann measured by gas chromatography-mass spectrometry. He also had patchy alopecia of the scalp and follicular atrophoderma of the knees.

Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia. In addition, CDP can be caused by maternal vitamin K deficiency or warfarin teratogenicity see None of the mutations were identical to those found by Derry et al. In some cases, affected areas of the skin may be darker or lighter than surrounding areas hyper- and hypopigmentation. By using this site, you agree to the Terms of Use and Privacy Policy.

He also had patchy cicatricial alopecia, right cataract, and right esotropia. Syndromes of the Head and Neck. Vertebral wedging was maximal in the lower thoracic spine.

Functional X-chromosomal mosaicism of the skin: However, males could receive and transmit the abnormal gene but could not exhibit the abnormal phenotype. Many of these disorders are caused by mutations in the PEX7 gene and are inherited as an autosomal recessive trait.


In the 3 kindreds studied, only females were affected in successive generations. In addition, there have been instances in which individuals with only mild manifestations have not been identified until adulthood.

Mutations of the EBP gene result in the accumulation of sterols in the plasma and certain tissues of the body.

The numbered bands specify the location of the thousands of genes that are present on each chromosome. Enzymes are proteins that increase the rate of certain chemical reactions in the conradl. 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.

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

Chromosomes are further sub-divided into many bands that are numbered. The pathognomonic dermatologic findings in the children included erythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life. Alport syndrome Dent’s disease X-linked nephrogenic diabetes insipidus.

Cohradi punctata was first described in the medical literature by Drs.

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.

They found abnormal plasma or tissue sterol profiles characterized by hunrrmann levels of 8-dehydrocholesterol and 8 9 hubermann, suggesting a deficiency of 3-beta-hydroxysteroid-delta 8 ,delta 7 -isomerase, a principal enzyme of cholesterol biosynthesis. Sterol levels are measured by gas chromatography – mass spectrometry.

The X-linked recessive form is clinically mild but has cerebral involvement.

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