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Progressive osseous heteroplasia

MONDO:0008153

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.

Also known as: POH, familial ectopic ossification, poh, ectopic ossification familial type, ectopic ossification, familial, osseous heteroplasia, progressive, osteoma cutis

13 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Skin disorder (123) Endocrine system disorder (61) Human disease (14) Hereditary skin disorder (5) Disease of genetic or genomic mechanism (2) Dermis disorder (0) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 8 Not yet recruiting 1 Not yet finished but already full! 2 Completed 2
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