CONRADI HUNERMANN SYNDROME PDF

It is caused by mutations in the gene encoding delta 8 -delta 7 sterol isomerase emopamil-binding protein EBP and is inherited in an X-linked dominant pattern with variable expressivity, possibly due to different patterns of X chromosome inactivation. What you should be alert for in the history Past medical history is very important for diagnosis if the patient presents later than neonatal period, since some of the clinical features resolve spontaneously as patients grow older. The alerting history includes congenital ichthyosiform erythroderma, systematized follicular atrophoderma, facial anomalies, limb shortening, joint dysfunction, hexadactyly and cataracts. Continue Reading.

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The specific symptoms and severity of the disorder may vary greatly from one individual to another. For a full-text version of this report, go to www. The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. It is possible that the title of this topic is not the name you selected.

Please check the Synonyms listing to find the alternate name s and Disorder Subdivision s covered by this report. This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

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Ortho-surgical management of a Conradi–Hünermann syndrome patient: rare case report

Alternative titles; symbols. Chondrodysplasia punctata CDP is a clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. X-linked dominant CDP, also known as Conradi-Hunermann syndrome, is the most well-characterized form. CDPX2 arises almost exclusively in females and is usually lethal in males. In addition to radiographic stippling, the disorder is characterized by rhizomelic shortness, transient congenital ichthyosis following the lines of Blaschko, patchy alopecia, cataracts, and midface hypoplasia. Affected males are extremely rare and the clinical features in males almost always result from postzygotic mosaicism for an EBP mutation summary by Aughton et al.

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Conradi Hünermann Syndrome

Correspondence Address : Dr. Conradi—Hunermann syndrome is a common form of chondrodysplasia punctata, inherited as X-linked dominant disorder of cholesterol metabolism due to mutation of emopamil-binding protein gene resulting in a spectrum of skeletal, cutaneous, and ocular abnormalities. One-day-old premature, cesarean-delivered female neonate admitted with xerotic, featherlike yellow-to-white hyperkeratotic scale all over the body with craniofacial defect, coarse hair, patches of cicatricial alopecia, and absent eyebrows. Baby had rhizomelic shortening of proximal limb, clinodactyly, club foot, talipes equinovarus, and bilateral congenital cataract. Radiological skeletal survey revealed punctate stippled calcification involving left femoral head epiphysis, bilateral tarsal bones, vertebral bodies of multiple thoracolumbar vertebrae, and sternum. Serum level of 8-dehydrocholesterol was elevated.

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Conradi–Hünermann syndrome

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. A rare genodermatosis disease with great phenotypic variation and characterized most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata CDP , asymmetric shortening of the limbs, cataracts and short stature.

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The specific symptoms and severity of the disorder may vary greatly from one individual to another. Why are the images hidden by default? Can I change this? They may not be downloaded or re-used for any purpose.

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