About Cartilage Hair Hypoplasia
Cartilage Hair Hypoplasia (CHH) is also known as metaphyseal dysplasia, McKusick type. The disorder was recognized as a clinical entity in 1965, when Victor McKusick and colleagues described the condition in an Amish population. The term “metaphyseal” relates to the metaphysis, which is the wide region located at the ends of long bones. The name “Cartilage Hair Hypoplasia” was used because of the characteristic features: fine, sparse hair and cartilage abnormalities.
It is more common in families with Old-world Amish and Finnish ancestors. Among Amish people, the incidence is approximately 1.5 in 1000 live births, and in Finland, it is 1 in 18,000 to 23,000.
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