• June 12, 2019

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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By adulthood, she had a gross kyphoscoliosis and was cm in height, with relative truncal shortening. 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. Thirteen of the mutations were novel.

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

Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia. Disorders of cholesterol biosynthesis: Osteochondrodysplasia Q77—Q78 The phenotype had mosaic features consistent with lyonization.

One expects with an X-linked dominant male-lethal gene to find a ratio of 1: In addition, there have been instances in which individuals with only mild manifestations have not been identified until adulthood. CDPX2 arises almost exclusively in females and is usually lethal in males.

However, males could receive and transmit the abnormal gene but could not exhibit the abnormal phenotype. The disorder studied by Ryan et al. 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.

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Epilepsy and mental retardation limited to females: Lethal non-rhizomelic dysplasia epiphysealis punctata. Chromosomes are further sub-divided into many bands that are numbered. Skin markers of X-linked dominant chondrodysplasia punctata.

Physical findings showed severe skeletal anomalies, including asymmetric skull with hypoplastic right face, short neck, kyphoscoliosis, shortness of the right upper and lower limbs, short right third digit, and dislocation of the head of the right radius. Comment on Traupe’s tribute to Rudolf Happle.

Conradi–Hünermann syndrome – Wikipedia

Corticosteroid including CAH aldosterone: In some cases, eye abnormalities can significantly reduce vision. The X-linked recessive form is clinically mild but has cerebral involvement. Such nonpenetrant males would be scored as recombinants. This explanation would account for the unexpected sex ratio M: Sheffield traced the legitimacy of a tripartite eponym for this disorder: The sparse scalp hair may also be unusually coarse and lusterless.

Metabolic interference would predict that all daughters of a nonpenetrant male gene carrier would be affected; transmission of the gene via an unaffected male has not been observed in the families with Happle syndrome.

Most female patients sydnrome the syndrome can live a long and normal life, while males have only survived in rare cases. Herman reviewed the cholesterol biosynthetic pathway and the 6 disorders involving enzyme defects coradi post-squalene cholesterol biosynthesis: Contrasting with the XXY male reported by Sutphen et al. Osteochondroma osteochondromatosis Hereditary multiple exostoses.


Sterol levels are measured by gas chromatography – mass spectrometry.

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

The gene mutated in bare patches and striated mice encodes a novel 3-beta-hydroxysteroid dehydrogenase. A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.

The mouse X-linked developmental mutant, tattered, lies between DXMit55 and Xkh and is associated syndrmoe hyperkeratinization. This affected male died at age 31 years due to restricted pulmonary disease secondary to severe kyphoscoliosis.

Elsevier Saunders, Philadelphia, PA; He also had patchy alopecia of the scalp and follicular atrophoderma of the knees. Achondroplasia Hypochondroplasia Thanatophoric dysplasia. This result suggested that the assumption that males with a mutant gene for Happle syndrome die in utero could be wrong.

RCDP conrdai life-threatening complications during the first decade of life and in some cases during the newborn neonatal period. He did not have cataracts, and cognition was normal. Expert curators review the literature and organize it to facilitate your work.