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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The vertebral bodies above and below this region were found to be comparatively normal. Fitzpatrick’s Dermatology in General Medicine. CHunerrmannCC ].

The disorder is often apparent at birth congenitalbut some individuals with conraxi cases may not be indentified until adulthood. National Organization for Rare Disorders.

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

One expects with an X-linked dominant male-lethal gene to find a ratio of 1: The EBP gene creates a protein known as emopamil-binding protein. Hunermqnn gene mutated in bare patches and striated mice encodes a novel 3-beta-hydroxysteroid dehydrogenase. Many of these disorders are caused by mutations in the PEX7 gene and are inherited as an autosomal recessive trait.


The connradi of the 2 forms of skin change in the adult was unusual. Cataracts may be present at birth congenital or may develop during infancy. Genodermatoses Skeletal disorders Syndromes affecting the skin Cholesterol and steroid metabolism disorders Rare syndromes.

Conradi–Hünermann syndrome

The sparse scalp hair may also be unusually coarse and lusterless. Growth deficiencies may ultimately result in a final adult height that is below normal short stature. This page was last edited on 30 Julyat Chromosomes are further sub-divided into many bands that are numbered.

An unstable premutation would also explain the striking clinical variability of the phenotype, including stepwise increases in disease expression in successive generations. OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. Such nonpenetrant males would be scored as recombinants. Males have one X and one Y chromosome and females have two X chromosomes.

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

None of the mutations were identical to those found by Derry et al. Has C, Bruckner-Tuderman L, et al.

syndorme 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.


Dyskeratosis congenita Hypohidrotic ectodermal dysplasia EDA X-linked ichthyosis X-linked endothelial corneal dystrophy. The specific symptoms and severity of the disorder may vary greatly from one individual to another.

Functional X-chromosomal mosaicism of the skin: Because of presumed homology to the mouse mutant ‘bare patches,’ on Xq28, they tested for linkage in that region and excluded it.

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

Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.

Lethal non-rhizomelic dysplasia epiphysealis punctata. A higher ratio of females to males Sheffield traced the legitimacy of a tripartite eponym for this disorder: Contrasting with the XXY male reported by Sutphen et al.

Whittock NV, Izatt L.

Rare Disease Database

Two of their mothers showed a mild form of cicatricial alopecia. We are determined to keep this website freely accessible. National Center for Biotechnology Conrafi. Orphanet encyclopedia, July