pyknodysostosis

A condition characterized by short stature, delayed closure of the fontanels, and hypoplasia of the terminal phalanges. Autosomal recessive inheritance. SYN: osteopetrosis acro- osteolytica. [pykno- + G. dys-, difficult, + osteon, bone, + -osis, condition]

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pyk·no·dys·os·to·sis or pyc·no·dys·os·to·sis .pik-nō-.dis-äs-'tō-səs n, pl -to·ses -.sēz a rare condition inherited as an autosomal recessive trait and characterized esp. by short stature, fragile bones, shortness of the fingers and toes, failure of the anterior fontanel to close properly, and a receding chin

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pyk·no·dys·os·to·sis (pik″no-dis″os-toґsis) an autosomal recessive disorder caused by mutation in the CTSK gene (locus: 1q21), which encodes cathepsin K, resulting in osteoclast dysfunction. It is characterized by short stature, osteosclerosis, fragility of bone, partial agenesis of terminal digits of hands and feet, cranial anomalies, frontal and occipital bossing, and hypoplasia of the angle of the mandible.