Peripheral dysostosis

Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Flat face

Absence of concavity or convexity of the face when viewed in profile.

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PMID (PMCID)
7205902	MIXED_SAMPLE	Adult
	A family with diaphyseal aclasis and peripheral dysostosis.
	Brooks AP, Wynne-Davies R. J Med Genet. 1980;17(4):277-80.
	The features of their type of peripheral dysostosis were short limbed short stature, normal intelligence, very stubby fingers, flat face and nose, shortened metacarpals and terminal phalanges, thickened beaten-copper skull vault, and advanced skeletal maturation.