Cartilage-Hair Hypoplasia Anauxetic Dysplasia Spectrum Disorders GeneReviews® NCBI Bookshelf
Table Of Content Evaluations Following Initial Diagnosis Differential Diagnosis PATIENT & FAMILY RESOURCES Suggestive Findings Clinical Trials Cartilage Hair Hypoplasia Treatment The hair may be seemingly completely unaffected; some patients suffer no apparent immunologic or hematologic defect; Hirschsprung disease of clinically evident severity occurs in a minority. Patients may be relatively tall; at least 1 Amish woman, the daughter of 2 affected persons, was 55 inches tall. She was thought to be unaffected until about age 9 when x-rays showed characteristic changes. At the other end of the spectrum of severity is severe involvement in all aspects of the disorder, including extensive aganglionosis of the bowel leading to early demise. Evaluations Following Initial Diagnosis Anauxetic dysplasia was named after the Greek "not to permit growth" [Horn et al 2001]. See Molecular Genetics for information on variants detected in this gene. About 10% of individuals w