Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2

Alternative Names

  • PHOAR2
  • Pachydermoperiostosis, Autosomal Recessive
  • PDP, Autosomal Recessive
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WHO-ICD-10 version:2010

Diseases of the musculoskeletal system and connective tissue

Osteopathies and chondropathies

OMIM Number

614441

Mode of Inheritance

Autosomal recessive

Gene Map Locus

3q22.1-q22.2

Description

Hypertrophic Osteoarthropathy is a rare skeletal and dermatological disorder characterised by the progressive thickening and furrowing of facial skin. Skeltal abnormalities include periostosis, digital clubbing, patellar sclerosis as well as sclerosis of the femur.  

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
601460.1.1LebanonMaleYes Clubbing of fingers ; Thickened skin ;...NM_005630.2:c.838C>THomozygousAutosomal, RecessiveSaadeh et al, 2015
601460.1.2LebanonUnknownYes Clubbing of fingers ; Thickened skin ; ...NM_005630.2:c.838C>THomozygousAutosomal, RecessiveSaadeh et al, 2015 Sibling of 601460.1....
614441.1United Arab EmiratesMaleNoNo Symmetric polyarthritis; Clubbing of fin...NM_005630.3:c.289C>THomozygousAutosomal, RecessiveAlbawa'neh et al. 2022 Successfully treated...
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