Cartilage hair hypoplasia syndrome
- Hirschsprung disease) is also found in some patients. Cartilage hair hypoplasia was first recognized by McKusick and colleagues in 1965 as a distinct entity in the Old Order Amish, a religious isolate, but was later identified in other groups. In the original study of the Amish, 6 cases of fatal varicella (chickenpox) pneumonia were noted. Inheritance of the syndrome is autosomal recessive. The gene is on chromosome 9 in band 9p13. The child who receives the gene from both parents has the syndrome. Not everyone with the syndrome is dwarfed. Patients may be relatively tall; at least 1 Amish woman with the syndrome is 55 inches tall. There is a remarkable degree of variability in all features of the syndrome. The hair may be seemingly completely unaffected; some patients suffer no apparent immunologic or hematologic defect. Diagnosis of the syndrome in the first year or so of life may be difficult. Cartilage hair hypoplasia is sometimes written with a hyphen as cartilage-hair hypoplasia syndrome, is abbreviated CHH, and is also known as metaphyseal chondrodysplasia of the McKusick type. Perhaps the best known person with the syndrome was Billy Barty (1924-2000), the diminutive actor, who founded Little People of America, an important advocacy group for persons with all forms of dwarfism.
Medical dictionary. 2011.
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