Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia. The syndrome goes by a number of names including the ''popliteal web syndrome'' and, more inclusively, the ''facio-genito-popliteal syndrome''. The term PPS was coined by Gorlin '' et al.'' in 1968 on the basis of the most unusual anomaly, the popliteal pterygium (a web behind the

knee In humans and other primates, the knee joins the thigh with the leg and consists of two joints: one between the femur and tibia (tibiofemoral joint), and one between the femur and patella (patellofemoral joint). It is the largest joint in the hu ...

Symptoms and signs

Clinical expressions of PPS are highly variable, but include the following: *

Limb Limb may refer to: Science and technology *Limb (anatomy), an appendage of a human or animal *Limb, a large or main branch of a tree *Limb, in astronomy, the curved edge of the apparent disk of a celestial body, e.g. lunar limb *Limb, in botany, ...

findings: an extensive web running from behind the knee down to the

heel The heel is the prominence at the posterior end of the foot. It is based on the projection of one bone, the calcaneus or heel bone, behind the articulation of the bones of the lower Human leg, leg. Structure To distribute the compressive for ...

(90%), malformed toenails, and webbed toes. * Facial findings: cleft palate with or without cleft lip (75%), pits in the lower lip (40%), fibrous bands in the

mouth In animal anatomy, the mouth, also known as the oral cavity, or in Latin cavum oris, is the opening through which many animals take in food and issue vocal sounds. It is also the cavity lying at the upper end of the alimentary canal, bounded on ...

known as syngnathia (25%), and tissue connecting the upper and lower eyelids * Genital findings (50%):

hypoplasia Hypoplasia (from Ancient Greek ὑπo- ''hypo-'' 'under' + πλάσις ''plasis'' 'formation'; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a tissue or organ.labia majora The labia majora (singular: ''labium majus'') are two prominent longitudinal cutaneous folds that extend downward and backward from the mons pubis to the perineum. Together with the labia minora they form the labia of the vulva. The labia majo ...

, malformation of the

scrotum The scrotum or scrotal sac is an anatomical male reproductive structure located at the base of the penis that consists of a suspended dual-chambered sac of skin and smooth muscle. It is present in most terrestrial male mammals. The scrotum cont ...

, and

cryptorchidism Cryptorchidism, also known as undescended testis, is the failure of one or both testes to descend into the scrotum. The word is from Greek () 'hidden' and () 'testicle'. It is the most common birth defect of the male genital tract. About 3% of ...

Genetics

The

genetic locus In genetics, a locus (plural loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located. Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total ...

for PPS was localized to chromosome 1 in 1999. The disorder is inherited in an autosomal dominant manner and is due to

mutation In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mi ...

of the IRF6

gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...

. Most reported cases are sporadic; advanced parental

age Age or AGE may refer to: Time and its effects * Age, the amount of time someone or something has been alive or has existed ** East Asian age reckoning, an Asian system of marking age starting at 1 * Ageing or aging, the process of becoming older ...

is found in a number of these cases, suggesting new mutations. The term PPS has also been used for two rare autosomal

recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

ly inherited conditions: ''Lethal PPS'' and ''PPS with Ectodermal Dysplasia''. Although both conditions feature a cleft lip/palate, syngnathia, and popliteal pterygium, they are clinically distinguishable from the autosomal dominant case. Lethal PPS is differentiated by

microcephaly Microcephaly (from New Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it ...

corneal The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. Along with the anterior chamber and lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power ...

aplasia, ectropion, bony fusions, hypoplastic

nose A nose is a protuberance in vertebrates that houses the nostrils, or nares, which receive and expel air for respiration alongside the mouth. Behind the nose are the olfactory mucosa and the sinuses. Behind the nasal cavity, air next passes th ...

and absent

thumb The thumb is the first digit of the hand, next to the index finger. When a person is standing in the medical anatomical position (where the palm is facing to the front), the thumb is the outermost digit. The Medical Latin English noun for thumb ...

s, while PPS with Ectodermal Dysplasia is differentiated by

wool Wool is the textile fibre obtained from sheep and other mammals, especially goats, rabbits, and camelids. The term may also refer to inorganic materials, such as mineral wool and glass wool, that have properties similar to animal wool. As ...

hair Hair is a protein filament that grows from follicles found in the dermis. Hair is one of the defining characteristics of mammals. The human body, apart from areas of glabrous skin, is covered in follicles which produce thick terminal and f ...

, brittle nails,

ectoderm The ectoderm is one of the three primary germ layers formed in early embryonic development. It is the outermost layer, and is superficial to the mesoderm (the middle layer) and endoderm (the innermost layer). It emerges and originates from t ...

al anomalies, and fissure of the

sacral Sacral may refer to: *Sacred, associated with divinity and considered worthy of spiritual respect or devotion *Of the sacrum The sacrum (plural: ''sacra'' or ''sacrums''), in human anatomy, is a large, triangular bone at the base of the spi ...

vertebra The spinal column, a defining synapomorphy shared by nearly all vertebrates,Hagfish are believed to have secondarily lost their spinal column is a moderately flexible series of vertebrae (singular vertebra), each constituting a characteristic ...

Relationship to Van der Woude syndrome

Van der Woude syndrome (VDWS) and popliteal pterygium syndrome (PPS) are

allelic An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chro ...

variants of the same condition; that is, they are caused by different mutations of the same gene. PPS includes all the features of VDWS, plus popliteal pterygium, syngnathia, distinct toe/nail abnormality, syndactyly, and genito- urinary malformations.

Diagnosis

Treatment

Epidemiology

The

diagnosis Diagnosis is the identification of the nature and cause of a certain phenomenon. Diagnosis is used in many different disciplines, with variations in the use of logic, analytics, and experience, to determine " cause and effect". In systems engin ...

of PPS has been made in several

ethnic An ethnic group or an ethnicity is a grouping of people who identify with each other on the basis of shared attributes that distinguish them from other groups. Those attributes can include common sets of traditions, ancestry, language, history, ...

groups, including Caucasian,

Japan Japan ( ja, 日本, or , and formally , ''Nihonkoku'') is an island country in East Asia. It is situated in the northwest Pacific Ocean, and is bordered on the west by the Sea of Japan, while extending from the Sea of Okhotsk in the north ...

ese, and

sub-Saharan African Sub-Saharan Africa is, geographically, the area and regions of the continent of Africa that lies south of the Sahara. These include West Africa, East Africa, Central Africa, and Southern Africa. Geopolitically, in addition to the African ...

. Males and females are equally likely to have the syndrome. Since the disorder is rare, its incidence rate is difficult to estimate, but is less than 1 in 300,000.

References

External links

{{DEFAULTSORT:Popliteal Pterygium Syndrome Autosomal dominant disorders Genodermatoses Rare syndromes Transcription factor deficiencies