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Pugilistic facies

MedGen UID:
Concept ID:
Synonym: 'Pugilistic facies'
HPO: HP:0000339


Coarse facial features reminiscent of those of a boxer. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPugilistic facies

Conditions with this feature

Spondyloperipheral dysplasia
MedGen UID:
Concept ID:
Disease or Syndrome
Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability.
Uruguay Faciocardiomusculoskeletal syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Uruguay faciocardiomusculoskeletal syndrome (FCMSU) is an X-linked disorder in which affected males have a distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy leading to premature death. Additional features include large, broad, and deformed hands and feet, congenital hip dislocation, and scoliosis (summary by Xue et al., 2016).

Professional guidelines


Al-Kandari H, Al-Abdulrazzaq D, Al-Jaser F, Al-Mulla F, Davidsson L
Prim Care Diabetes 2021 Feb;15(1):175-177. Epub 2020 Aug 23 doi: 10.1016/j.pcd.2020.07.012. PMID: 32843252
Vergano SS, Deardorff MA
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):252-6. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31411. PMID: 25169447
Almalki MH, Chesover AD, Johnson MD, Wilkins GE, Maguire JA, Ur E
Clin Invest Med 2012 Feb 1;35(1):E27-33. doi: 10.25011/cim.v35i1.16103. PMID: 22309962

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