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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Conradi–Hünermann syndrome

This explanation would account for the unexpected sex ratio M: X-linked dominant disorders are conditions caused by an abnormal gene on the X chromosome. Syndromes of the Head and Neck. Mutations of the EBP gene result in conradii accumulation of sterols in the plasma and certain tissues of the body. Retrieved from ” https: Some affected infants are prone to developing repeated infections.

Decreased peroxisomal enzyme activity was demonstrated on fibroblast cultures. They considered 3 mechanisms that might explain the apparent exclusion of the X-linked gene from the X chromosome by linkage analysis.

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RCDP causes life-threatening complications during the first decade of life and in some cases during the newborn neonatal period. In some cases, syndroms abnormalities can significantly reduce vision. Both the ichthyotic and psoriasiform skin lesions followed Blaschko lines.

This page was last edited on 30 Julyat Milder forms of RCDP have been identified in which affected individuals have less severe mental deficits and growth dyndrome and often no rhizomelia.

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. Genodermatoses Skeletal disorders Syndromes affecting the skin Cholesterol and steroid metabolism disorders Rare syndromes. By using this site, you agree to the Terms of Use and Privacy Policy.


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

Cataracts may affect one or both eyes. Chondrodysplasia punctata, X-linked dominant. Sterol levels are measured by gas chromatography-mass spectrometry. New York, NY; Two of their mothers showed a mild form of cicatricial alopecia. Aromatase deficiency Aromatase excess syndrome.

Men with a disease gene for an X-linked disorder transmit the gene to their daughters but not to their sons. 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 nasal hypoplasia. The phenotype of Td is similar to that seen in heterozygous females with human X-linked dominant chondrodysplasia punctata as well as another X-linked semidominant mouse mutation, ‘bare patches’ Bpa.

XXY male with X-linked dominant chondrodysplasia punctata Happle syndrome. Abnormal stiffness of the joints or joints that are fixed or locked in a bent position flexion contractures may also occur.

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

The first girl presented in infancy with asymmetric limb shortening, flat face, saddle nose, and cataracts. Elsevier Saunders, Philadelphia, PA; 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. Years Published, Homologous genes for X-linked ayndrome punctata in man and mouse.

This hypothesis would suggest that only females manifest the disorder and that it would segregate in a manner mimicking X-linked dominant transmission.


Ornithine transcarbamylase deficiency Oculocerebrorenal syndrome Dyslipidemia: Usually in X-linked dominant chondrodysplasia punctata, punctate epiphyseal calcifications and ichthyotic skin lesions are both transient, resolving during early infancy. Craniofacial anomalies and twisted toes have also been observed in some affected females. The infant died at approximately 1 hour of age. A second possibility is that of metabolic interference as proposed by Johnson According to researchers, in males who inherit a disease gene for an X-linked dominant disorder hemizygotes conrzdi, it is suspected that full expression of the disorder may be associated with loss stndrome life congadi birth.

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In some cases, affected areas of the skin may be darker or lighter than surrounding areas hyper- and hypopigmentation. An unstable premutation would also explain the striking clinical variability of the phenotype, including stepwise increases in disease expression in successive generations. Affected individuals also frequently have abnormal sideways and, in some cases, front-to-back curvature donradi the spine scoliosis or kyphoscoliosis.

Disorders of cholesterol biosynthesis: Cartilage is a tough, elastic type of connective tissue that provides cushion and structure within the body. yunermann

The linkage of the gene seemed to be excluded for the entire X chromosome by 2-point linkage analysis. No skeletal or ocular abnormalities were noted, and no neurologic abnormalities were reported. Other symptoms can be treated with medicine or surgery. Cataracts may be present at birth congenital or may develop during infancy.