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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Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.

Later, patterned ichthyosis, follicular atrophoderma, coarse lusterless hair, and cicatricial alopecia become evident. While the OMIM database is open to the ayndrome, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions. Inborn errors of steroid metabolism. 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.

A number sign is used with this synxrome because X-linked dominant chondrodysplasia punctata-2 CDPX2 is caused by mutation in the gene encoding delta 8 -delta 7 sterol isomerase emopamil-binding protein EBP; on chromosome Xp A firm diagnosis would not have been possible on the basis of the radiologic findings in the mother alone. Mutations of the EBP gene result in the accumulation of sterols in the plasma and certain tissues of the body. Such features commonly include asymmetric shortening of long bones of the limbs, particularly those of the upper arms humeri and the thigh bones femoracausing disproportionate length of the arms and legs with one side typically more affected than the other.

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

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

Some affected infants are prone to developing repeated infections. 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.

Within families, there is variation in the severity of the clinical picture between affected females, and this is largely secondary to differences in X-inactivation. The second girl first presented at age 13 years.

The mother of 1 of the patients had bone dysplasia consistent with the X-linked dominant form of chondrodysplasia punctata. D ICD – Physical findings showed severe skeletal anomalies, including asymmetric skull with hypoplastic right face, short neck, kyphoscoliosis, shortness huneemann the right upper and lower limbs, short right third digit, and dislocation of the head of the right radius.

Sheffield traced the legitimacy of a tripartite eponym for this disorder: The infant died at approximately 1 hour of age. He did not have cataracts, and cognition was normal. In many cases, this mutation occurs randomly, for no apparent reason i. Investigators have determined that the EBP gene is located on the short arm p of the X chromosome Xp The location of the Bpa gene in the mouse suggested that the human counterpart is in the Xq28 region.

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 the retina to the brain optic atrophy. The coexistence of the 2 forms of skin change in the adult was unusual. It is important to note that affected individuals may not have all of the symptoms discussed below.

She had hyperkeratotic brownish plaques on the lower extremities following the lines of Blaschko and generalized brownish scales sparing the scalp, face, palms, soles, and inguinal area. Heterogeneity of chondrodysplasia punctata.

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Affected infants may fail to grow and gain weight at the rate expected for age and gender failure to thrive. All studies receiving U. Males have one X and one Y chromosome and females have two X chromosomes. Disorders of cholesterol biosynthesis: Additional findings include distinctive facial features, the formation of small, hardened spots of calcium stippling on the knee cap patella and long bones of the arms and legs chondrodysplasia punctatacataracts that are present at birth or shortly thereafter, profound growth deficiency after birth, mental retardation, and seizures.

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

The specific symptoms and severity of the disorder may vary greatly from one individual to another. Affected Males Sutphen et al. The assignment of the EBP gene to Xp Affected females had typical skin manifestations and all but 1 had skeletal dysplasia. CDPX2 patients display conrdi 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 hunermabn defects Derry et al.

Rare Disease Database

Retrieved from ” https: This page was last edited on 30 Julyat A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. X-linked Dominant Chondrodysplasia Punctata. 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.