Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patients

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Abstract
Cartilage-hair hypoplasia is an autosomal recessive metaphyseal chondrodysplasia with short-limbed short stature, hypoplastic hair, and defective immunity and erythrogenesis. We have analysed the clinical outcome of 108 Finnish patients. Birth length was below −2.0 SD in 70% of the patients; the adult heights ranged from −11.4 SD to −5.2 SD. The sitting height percentage was increased in all but 4 patients. Six patients had normal hair. Increased ligamentous laxity was present in 95%, limited extension of the elbows in 92%, increased lumbar lordosis in 85%, thoracal deformity in 68%, genu varum in 63% and scoliosis in 21% of the patients. Defective cellular immunity had been observed in 88% and increased susceptibility to infections in 56% of the patients. Six patients had died of primary infections. The incidence of malignancies was 6%. Childhood anaemia had occurred in 79% of the patients. It was usually mild, but severe in 14 patients. Hirschsprung disease had been observed in 8, anal stenosis in 1 and oesophageal atresia in 1 patient. The intrafamilial variation of the syndrome was considerable as studied in 16 sibships.