Progressive osseous heteroplasia

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Progressive osseous heteroplasia

Synonyms: Familial ectopic ossification | POH

Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification that progressively involves subcutaneous and then subsequently deep connective tissues including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy pseudohypoparathyroidism (see these terms) and primary osteoma cutis that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3) coding for guanine nucleotide-binding proteins. POH can however be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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Clinical Trials

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