Popliteal Pterygium Syndrome (PPS)

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Disease Ontology 12 DOID:0060055 OMIM 56 119500 KEGG 36 H00611 MeSH 43 C562509 D011625 NCIt 49 C118786 SNOMED-CT 67 66783006

ICD10 via Orphanet 33 Q87.2 UMLS via Orphanet 72 C0265259 Orphanet 58 ORPHA1300 ORPHA294963 MedGen 41 C0265259 SNOMED-CT via HPO 68 111266001 17790008 193953008 204508009 204878001 204912007 21321009 236780002 237939006 249769001 249808002 253836009 263681008 268251006 289469003 299034005 32113001 32958008 34048007 35850006 397932003 400952003 52448006 63567004 64217002 76916001 80281008 84445001 87979003 more UMLS 71 C0265259 C0345398

Genetics Home Reference : ²⁵ Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with popliteal pterygium syndrome have missing teeth. Individuals with popliteal pterygium syndrome may be born with webs of skin on the backs of the legs across the knee joint, which may impair mobility unless surgically removed. Affected individuals may also have webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, or tissue connecting the upper and lower eyelids or the upper and lower jaws. They may have abnormal genitals, including unusually small external genital folds (hypoplasia of the labia majora) in females. Affected males may have undescended testes (cryptorchidism) or a scrotum divided into two lobes (bifid scrotum). People with popliteal pterygium syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, may have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with popliteal pterygium syndrome is not significantly different from that of the general population.

MalaCards based summary : Popliteal Pterygium Syndrome, also known as pps, is related to bartsocas-papas syndrome and syngnathia. An important gene associated with Popliteal Pterygium Syndrome is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Hypothetical Craniofacial Development Pathway. Affiliated tissues include skin, uterus and testes, and related phenotypes are joint stiffness and cleft palate

Disease Ontology : ¹² A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has material basis in mutations in the IRF6 gene on chromosome 1.

NIH Rare Diseases : ⁵² Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip and/or a cleft palate . Other symptoms may include depressions (pits) near the center of the lower lip, small mounds of tissue on the lower lip, or missing teeth. Other features may include webs of skin on the backs of the legs across the knee joint (popliteal pterygium), webbing or fusion of the fingers or toes (syndactyly ), triangular shaped folds of skin over the nails of the large toes, and tissue connecting the upper and lower eyelids or the upper and lower jaw. Affected people may also have abnormal genitals. There is no growth delay and intelligence is usually normal. Inheritance is autosomal dominant . It is caused by mutations in the IRF6 gene . Treatment may include reconstructive surgery for the oral defects, such as the cleft lip and cleft palate , and for other defects such as the popliteal pterygium or abnormal genitalia. Popliteal pterygium syndrome is part of the IRF6-related disorders which also include Van der Woude syndrome 2 .

OMIM : ⁵⁶ 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). (119500)

KEGG : ³⁶ Popliteal pterygium syndrome (PPS) is an autosomal dominant orofacial cleft syndrome caused by IRF6 mutations. Clinical manifestations of PPS include cleft lip and/or palate in association with webcausing popliteal connective tissue, syndactyly, and genital abnormalities.

UniProtKB/Swiss-Prot : ⁷³ Popliteal pterygium syndrome: An autosomal dominant disorder characterized by oro-facial, skin and genital anomalies. Expressivity is variable. Clinical features include cleft lip/palate, lower lip cysts, syngnathia, congenital ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic scrotum, hypoplastic uterus, talipes equinovarus.

Wikipedia : ⁷⁴ Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia.... more...

Clinical features from OMIM:

119500

Search Clinical Trials , NIH Clinical Center for Popliteal Pterygium Syndrome

Search GEO for disease gene expression data for Popliteal Pterygium Syndrome.