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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Skin markers of X-linked dominant chondrodysplasia punctata. Later, patterned ichthyosis, follicular atrophoderma, coarse lusterless hair, hunetmann cicatricial alopecia become evident. Two-point linkage analysis and analysis of recombination chromosomes seemed to exclude the gene from the entire X chromosome. Because of presumed homology to the mouse mutant ‘bare patches,’ on Xq28, they tested for linkage in that region and excluded it.

Mutations in the EBP gene were identified in 22 of the 26 females studied, including 20 of the 22 patients who demonstrated an abnormal sterol profile. Chondrodysplasia punctata, X-linked dominant.


Alport syndrome Dent’s disease X-linked nephrogenic diabetes insipidus. Various orthopedic measures, including surgery, may be recommended to help prevent, treat, or correct certain skeletal abnormalities associated with the disorder.

Happle and Kuchle pictured a sectorial cataract in a woman with X-linked dominant chondrodysplasia punctata and proposed that this reflected lyonization. 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. For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.

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This hypothesis would suggest that only females manifest the disorder and that it would segregate in a manner mimicking X-linked dominant transmission. Unfortunately, it is not free to produce. The vertebral bodies above and below this region were found to be comparatively normal.

The disorder studied by Ryan et al. Hearing loss has been reported in some cases. These disorders include other forms of ichthyosis.

This page was last edited on 30 Julyat Some affected infants coradi prone to developing repeated infections. Gonadal mosaicism may be suspected hunermanb apparently unaffected parents have more than one child with the same genetic abnormality. Usually in X-linked dominant chondrodysplasia punctata, punctate epiphyseal calcifications and ichthyotic skin lesions are both transient, resolving during early infancy.

Happle reviewed 35 cases, all female. Emopamil-binding protein functions as a sterolisomerase enzyme and plays a role in cholesterol biosynthesis.

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

Additional features included coarse, dry hair with spotty scalp alopecia, mild nasal depression, mild midface flattening, and cutaneous linear streaky hypotrophy. They found abnormal plasma or tissue sterol profiles characterized by increased levels of 8-dehydrocholesterol and 8 9 -cholestenol, suggesting a deficiency of 3-beta-hydroxysteroid-delta 8 ,delta 7 -isomerase, a principal enzyme of cholesterol biosynthesis.

She had short stature, asymmetric limb shortening, postaxial polydactyly, pronounced kyphoscoliosis, dry and scaly skin, sparse hair with areas hhnermann alopecia, and cataracts.

Additional characteristic findings may include sparse, unruly hair; ichthyosis, primarily over the neck, on the chest, under the arms, and on the backs of the legs; and underdevelopment of the nose sundrome hypoplasia.


These disorders include Zellweger spectrum disorders, Smith-Lemli-Optiz syndrome, fetal alcohol syndrome, trisomies 18 and 12, Greenberg dysplasia, and chondrodysplasia punctata, tibia-metacarpal type. X-linked ichthyosis Antley—Bixler syndrome. In rare cases, additional eye ocular abnormalities include abnormally small eyes microphthalmosabnormally small corneas microcorneadown-slanting eyelid folds palpebral fissuresrapid, involuntary eye movements nystagmusand degeneration of the main nerve that transmits nerve impulses from syndromd retina to the brain optic atrophy.

Conradi–Hünermann syndrome

Both the ichthyotic and psoriasiform skin lesions followed Blaschko lines. The surgical procedures performed will depend on the nature, severity, and combination of anatomical abnormalities, their associated symptoms, and other factors.

Epilepsy and mental retardation shndrome to females: By adulthood, she had a gross kyphoscoliosis and was cm in height, with relative truncal shortening.

Mutations in the gene encoding 3-beta-hydroxysteroid-delta 8 ,delta 7 -isomerase cause X-linked dominant Conradi-Hunermann syndrome. However, as noted above, there is loss of distinctive epiphyseal stippling over time, potentially making diagnosis difficult.

Conradi–Hünermann syndrome – Wikipedia

Mutations of the EBP gene result in the accumulation of sterols in the plasma and certain tissues of the body. Metaphyseal dysplasia Jansen’s metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia. XXY male with X-linked dominant chondrodysplasia punctata Happle syndrome.