CONDRODISPLASIA PUNCTATA PDF

Listen Making a diagnosis for a genetic or rare disease can often be challenging. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. The intended audience for the GTR is health care providers and researchers.

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Listen Making a diagnosis for a genetic or rare disease can often be challenging. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. The intended audience for the GTR is health care providers and researchers.

Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Listen If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

They may be able to refer you to someone they know through conferences or research efforts. You can find more tips in our guide, How to Find a Disease Specialist.

We also encourage you to explore the rest of this page to find resources that can help you find specialists. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself.

Listen Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease.

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Chondrodysplasia punctata

See Molecular Genetics for information on allelic variants detected in this gene. Sequence analysis detects variants that are benign, likely benign, of uncertain significance , likely pathogenic, or pathogenic. For issues to consider in interpretation of sequence analysis results, click here. Review of approximately 80 pathogenic variants in all available published case literature, ClinVar [ Landrum et al ], and HGMD [ Stenson et al ] did not identify large intragenic deletions or duplications as a cause of CDPX2 [Author, personal observation]. Methods used may include quantitative PCR , long-range PCR, multiplex ligation-dependent probe amplification MLPA , and a gene -targeted microarray designed to detect single- exon deletions or duplications. Clinical Characteristics Clinical Description Variability in females.

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Condrodisplasia punctata rizomélica

Description Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. Rhizomelic chondrodysplasia punctata is characterized by shortening of the bones in the upper arms and thighs rhizomelia. Affected individuals also have a specific bone abnormality called chondrodysplasia punctata, which affects the growth of the long bones and can be seen on x-rays. People with rhizomelic chondrodysplasia punctata often develop joint deformities contractures that make the joints stiff and painful. Distinctive facial features are also seen with rhizomelic chondrodysplasia punctata. These include a prominent forehead , widely set eyes hypertelorism , a sunken appearance of the middle of the face midface hypoplasia , a small nose with upturned nostrils, and full cheeks.

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Rhizomelic chondrodysplasia punctata

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Condrodisplasia punctata rizomélica

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