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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She had always been smaller than her peers, and spinal curvature, which had been recognized in early childhood, had progressed. Sterol levels are measured by gas chromatography – mass spectrometry.

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

Herman reviewed the cholesterol biosynthetic pathway and the 6 disorders involving enzyme defects in post-squalene cholesterol biosynthesis: Although the eruption usually resolves during infancy, older children may subsequently develop inflammation and wasting atrophy hunnermann follicles follicular atrophodermacausing pores to appear unusually large. X-linked dominant Conradi-Hunermann syndrome presenting as congenital erythroderma.

Mutations in the gene encoding 3-beta-hydroxysteroid-delta 8 ,delta 7 -isomerase cause X-linked dominant Conradi-Hunermann syndrome. Family members bore other stigmata including patchy cicatricial alopecia, coarse hair, follicular atrophoderma, frontal bossing, cataracts, short stature, and short proximal limbs.

However, males could receive and transmit the abnormal gene but could not exhibit the abnormal phenotype.

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Such nonpenetrant males would be scored as recombinants. Genetic counseling may be of benefit for affected individuals and their families. The disorder can cause serious complications at birth or be so mild that individuals may not be identified until adulthood usually after having an affected child.


Later, patterned ichthyosis, follicular atrophoderma, coarse lusterless hair, and cicatricial alopecia become evident. 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.

The disorder is caused by deletions or chromosomal rearrangements translocations involving the end of the short arm p of chromosome X Xp RCDP causes life-threatening complications during the first decade of life and in some cases during the newborn neonatal period. Because the disorder is inherited as an X-linked recessive trait, it is typically fully expressed in males only.

Patchy areas of hair loss and scarring may develop on the scalp cicatricial alopecia. A gene mapped to this chromosomal region regulates production of an enzyme known as arylsulfatase E ARSE.

Affected infants may fail to grow and gain weight at the rate expected for age and gender failure to thrive.

National Center for Biotechnology Information. X-linked ichthyosis Antley—Bixler syndrome. Spondyloepiphyseal dysplasia congenita Multiple epiphyseal dysplasia Otospondylomegaepiphyseal dysplasia. This explanation would account for the unexpected sex ratio M: Clinical Synopsis Toggle Dropdown.

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

Both the ichthyotic and psoriasiform skin lesions followed Blaschko lines. Alport syndrome Dent’s disease X-linked nephrogenic diabetes insipidus. Two-point linkage analysis and analysis of recombination chromosomes seemed to exclude the gene from the entire X chromosome. X-ray evaluation may reveal characteristic stippling of epiphyses and other regions of the cartilaginous skeleton. Close linkage of the murine locus bare patches to the X-linked visual pigment gene: Gonadal mosaicism may be suspected when apparently unaffected parents have more than one child with the same genetic abnormality.


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

Has C, Bruckner-Tuderman L, et al. Women with a copy of the disease gene have a 50 percent risk of transmitting the gene to their daughters and their sons. 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.

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 knees, left talipes equinovarus and hyperkeratosis with erythema of the left side of the body.

The authors concluded that abnormal cholesterol biosynthesis is a characteristic of some syndromes with rhizomelic shortening and chondrodysplasia punctata. A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.

Dominant sex-linked inherited chondrodysplasia punctata: