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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Other symptoms can be treated with medicine or surgery. The content of the website and databases of the National Organization for Rare Disorders NORD is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from NORD. The first girl presented in infancy with asymmetric limb shortening, flat face, saddle nose, and cataracts.

The location of the Bpa gene in the mouse suggested that the human counterpart is in the Xq28 region.

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

Color blindness red and green, but not blue Ocular albinism 1 Norrie disease Choroideremia Other: In addition, there have been instances in which individuals with only mild manifestations have not hunrmann identified until adulthood.

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.

A potential second allele of Td was described by Seo et al. Additional distinctive facial features may occur in some cases including an unusually synddrome forehead frontal bossingflattened cheekbones malar hypoplasiaa flattened bridge of the nose, upturned nostrils anteverted nares and malformed dysplastic ears.


She had always been smaller than her peers, and spinal curvature, which had been recognized in early childhood, had progressed. In some cases, eye abnormalities can significantly reduce vision. Evidence suggests that the greatest period of risk occurs from approximately six to nine weeks following conception.

Rare Disease Database

The X-linked recessive form is clinically mild but has cerebral involvement. The mother of 1 of the patients had bone dysplasia consistent with the X-linked dominant form of chondrodysplasia punctata.

The pathognomonic dermatologic findings in the children included erythematous skin changes and striated ichthyosiform hyperkeratosis during the first months of life.

Heterozygous females are small and at 4 to 5 days of age develop patches of hyperkeratotic skin where no hair grows, resulting in a striping of the coat in adults Uwechue et al. Homologous genes for X-linked chondrodysplasia punctata in man and mouse. She did not manifest cataracts, polydactyly, scoliosis, or asymmetric limb shortening. RCDP causes life-threatening complications during the first decade of life and in some cases during the newborn neonatal period. The gene encodes a steroid dehydrogenase enzyme that also plays a role in cholesterol metabolism.

Herman reviewed the cholesterol biosynthetic pathway and the 6 disorders involving enzyme defects in post-squalene cholesterol biosynthesis: Sterol levels are measured by gas chromatography – mass spectrometry.

The phenotype synvrome mosaic features consistent with lyonization.

Dominant sex-linked inherited chondrodysplasia punctata: Cataracts may hunermmann present at birth congenital or may develop during infancy. Close linkage of the murine locus bare patches to the X-linked visual pigment gene: In the case of the infant there had been no maternal exposure to embryopathic agents, and, in particular, no warfarin therapy had been given. Contrasting with the XXY male reported by Sutphen et al. Affected females had typical skin manifestations and all but 1 had skeletal dysplasia.


Only after 5 months did the streaky hyperkeratotic pattern characteristic of the disorder appear. This page was last edited on 30 Julyat The disorder is often apparent hunermanb birth congenitalbut some individuals with mild cases may not be indentified until adulthood.

A gene mapped to this chromosomal region regulates production of an enzyme known as arylsulfatase E ARSE. Raine syndrome Osteopoikilosis Osteopetrosis.

Traupe recounted difficulties in mapping the gene for X-linked dominant chondrodysplasia punctata or, as he called it, Happle syndrome.

Intelligence is usually unaffected. Rudolf Happle and the lines of Alfred Blaschko. Skin markers of X-linked dominant chondrodysplasia punctata.

X-linked ichthyosis Antley—Bixler syndrome. Dyskeratosis congenita Hypohidrotic ectodermal dysplasia EDA X-linked ichthyosis X-linked endothelial corneal dystrophy. Milder forms of RCDP have been identified in hujermann affected individuals have less severe mental deficits and growth deficiency and often no rhizomelia.

Mutations of the EBP gene result in the accumulation of sterols in the plasma and certain tissues of the body.

Males have one X and one Y chromosome and females have two X chromosomes. She had short stature, asymmetric limb shortening, postaxial polydactyly, pronounced kyphoscoliosis, dry and scaly skin, sparse hunermamn with areas of alopecia, and cataracts.

Rhizomelic chondrodysplasia punctata RCDP spectrum are a group of rare disorders that are also classified as peroxisomal biogenesis disorders. The EBP gene creates a protein known as emopamil-binding protein.