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PPS
MCID: PPL025
MIFTS: 54
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Popliteal Pterygium Syndrome (PPS)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Popliteal Pterygium Syndrome:
Characteristics:Orphanet epidemiological data:59
popliteal pterygium syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;
autosomal dominant popliteal pterygium syndrome
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
clinical variability incidence of 1 in 300,000 HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases
ICD10:
34
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Genetics Home Reference
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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 van der woude syndrome 1. An important gene associated with Popliteal Pterygium Syndrome is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are NF-kappaB Signaling and Hypothetical Craniofacial Development Pathway. Affiliated tissues include skin, uterus and testes, and related phenotypes are joint stiffness and cleft palate Disease Ontology : 12 An autosomal dominant disease 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 : 53 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. KEGG : 37 
UniProtKB/Swiss-Prot : 74 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 : 75 Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia.... more...
More information from OMIM:
119500
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Human phenotypes related to Popliteal Pterygium Syndrome:59 32 (show all 34)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:119500GenomeRNAi Phenotypes related to Popliteal Pterygium Syndrome according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Popliteal Pterygium Syndrome:46
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Cochrane evidence based reviews: popliteal pterygium syndrome |
MalaCards organs/tissues related to Popliteal Pterygium Syndrome:41
Skin,
Uterus,
Testes,
Eye,
Heart,
Pancreas,
Salivary Gland
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Articles related to Popliteal Pterygium Syndrome:(show top 50) (show all 120)
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Genes related to Popliteal Pterygium Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Popliteal Pterygium Syndrome:6 (show top 50) (show all 152)
UniProtKB/Swiss-Prot genetic disease variations for Popliteal Pterygium Syndrome:74
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Search
GEO
for disease gene expression data for Popliteal Pterygium Syndrome.
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Biological processes related to Popliteal Pterygium Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Popliteal Pterygium Syndrome according to GeneCards Suite gene sharing:
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