Campomelic Dysplasia


Serval ID
A part of a book
Campomelic Dysplasia
Title of the book
Unger S., Scherer G., Superti-Furga A.
Address of publication
Seattle (WA)
Publication state
Issued date
Pagon  R. A., Adam  M. P., Ardinger  H. H., Wallace  S. E., Amemiya A., Bean  L. J. H., Bird  T. D., Fong  C. T., Mefford  H. C., Smith  R. J. H., Stephens K.
Pagon, Roberta A
Adam, Margaret P
Ardinger, Holly H
Wallace, Stephanie E
Amemiya, Anne
Bean, Lora JH
Bird, Thomas D
Fong, Chin-To
Mefford, Heather C
Smith, Richard JH
Stephens, Karen
Unger, Sheila
Scherer, Gerd
Superti-Furga, Andrea
Book Chapter
Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and club feet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype. Many affected infants die in the neonatal period; additional problems identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment. The diagnosis of CD is usually based on clinical and radiographic findings. Molecular genetic testing of SOX9, the only gene in which mutations are known to cause CD, detects mutations or chromosome rearrangements in approximately 95% of affected individuals. Treatment of manifestations: Care of children with cleft palate by a craniofacial team using routine measures; care of club feet and hip subluxation using standard protocols; surgery as needed for cervical vertebral instability and progressive cervico-thoracic kyphoscoliosis that compromises lung function. In persons with a 46,XY karyotype and undermasculinization of the genitalia, the gonads should be removed because of the increased risk for gonadoblastoma. Hearing aids for those with hearing impairment. Surveillance: Annual monitoring of growth and spinal curvature. CD is inherited in an autosomal dominant manner. To date, most probands have CD as the result of a de novo mutation in SOX9; thus, parents of probands are not typically affected. However, a few adults have been diagnosed with CD following the birth of an affected child. Recurrence in sibs has occurred and somatic and germline mosaicism have been reported. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation in the family is known.
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03/12/2015 10:03
Last modification date
13/12/2019 6:26
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