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Autosomal dominant popliteal pterygium syndrome(PPS)

MedGen UID:
1844082
Concept ID:
C5848052
Disease or Syndrome
Synonyms: CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES; FACIOGENITOPOPLITEAL SYNDROME
SNOMED CT: Autosomal dominant popliteal pterygium syndrome (718222000); Facio-genito-popliteal syndrome (718222000); Popliteal web syndrome (718222000)
Modes of inheritance:
 
IRF6 (1q32.2)
 
Monarch Initiative: MONDO:0007334
OMIM®: 119500
Orphanet: ORPHA1300
Authors:

Additional description

From OMIM
Popliteal pterygium syndrome (PPS) is an autosomal dominant disorder with diverse clinical features including orofacial anomalies such as lower lip pits, cleft lip and/or palate, and syngnathia, and skin and genital abnormalities including webbing of the lower limbs, syndactyly, hypoplasia of the labia majora, and bifid or absent scrotum (summary by Matsuzawa et al., 2010).  http://www.omim.org/entry/119500

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Clinical prediction guides

Hammond NL, Dixon J, Dixon MJ
Semin Cell Dev Biol 2019 Jul;91:75-83. Epub 2017 Aug 10 doi: 10.1016/j.semcdb.2017.08.021. PMID: 28803895

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