Progressive osseous heteroplasia
- Synonyms
- ECTOPIC OSSIFICATION, FAMILIAL; Osseus Heteroplasia, Progressive; Progressive Osseus Heteroplasia (POH)
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intellectual disability and developmental delay); and The Albright hereditary osteodystrophy (AHO) phenotype (short stature, round facies, and subcutaneous ossifications) and brachydactyly type E (shortening mainly of the 4th and/or 5th metacarpals and metatarsals and distal phalanx of the thumb). Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). PPHP, a more limited form of PHP-Ia, is characterized by various manifestations of the AHO phenotype without the hormone resistance or obesity. POH and OC are even more restricted variants of PPHP: POH consists of dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia. OC consists of extra-skeletal ossification that is limited to the dermis and subcutaneous tissues.
- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Chad R Haldeman-Englert
- Anna CE Hurst
- Michael A Levine
- view full author information
Available tests
47 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (47 available)
Clinical features
Help- Abnormality of limbs
- Limb undergrowth
Limb undergrowth
- MedGen UID: 116086
- Concept ID: C0239399
- Finding: Finding
Abnormality of limbs
- Limb undergrowth
- Abnormality of the integument
- Progressive osseous heteroplasia
Progressive osseous heteroplasia
- MedGen UID: 137714
- Concept ID: C0334041
- Finding: Disease or Syndrome
Abnormality of the integument
- Progressive osseous heteroplasia
- Abnormality of the musculoskeletal system
- Ankylosis
Ankylosis
- MedGen UID: 8101
- Concept ID: C0003090
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Ectopic ossification in muscle tissue
Ectopic ossification in muscle tissue
- MedGen UID: 868693
- Concept ID: C4023096
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Ankylosis
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