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Popliteal pterygium syndrome(PPS)

MedGen UID:
78543
Concept ID:
C0265259
Disease or Syndrome
Synonyms: Cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies; Faciogenitopopliteal syndrome; IRF6-Related Disorders; PPS
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Popliteal pterygium syndrome (66783006); Facio-genito-popliteal syndrome (66783006)
 
Gene: IRF6
Cytogenetic location: 1q32.2
OMIM®: 119500
Orphanet: ORPHA1300

Disease characteristics

Excerpted from the GeneReview: IRF6-Related Disorders
IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP)
Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P . Fistulae of the lower lip . Webbing of the skin extending from the ischial tuberosities to the heels . In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes . Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic) . In some non-classic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon) . In both VWS and PPS, growth and intelligence are normal. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Brian C Schutte  |  Howard M Saal  |  Steven Goudy, et. al.   view full author information

Additional description

From GHR
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.  http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome

Clinical features

Hypoplasia of the uterus
MedGen UID:
500879
Concept ID:
CN000014
Finding
Underdevelopment of the uterus.
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Scrotal hypoplasia
MedGen UID:
500880
Concept ID:
CN000046
Finding
Bifid scrotum
MedGen UID:
504318
Concept ID:
CN000048
Finding
Separation of the two halves of the scrotum, whereby commonly the 2 halves of the scrotum meet above the penis.
Abnormality of female external genitalia
MedGen UID:
446335
Concept ID:
CN000055
Finding
An abnormality of the female external genitalia.
Hypoplastic labia majora
MedGen UID:
500881
Concept ID:
CN000059
Finding
Undergrowth of the outer labia.
Ambiguous genitalia
MedGen UID:
504323
Concept ID:
CN000062
Finding
A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.
Hypoplasia of the vagina
MedGen UID:
501047
Concept ID:
CN007676
Finding
Developmental hypoplasia of the vagina.
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Cleft palate
MedGen UID:
776579
Concept ID:
C2240378
Finding
Lower lip pit
MedGen UID:
504388
Concept ID:
CN000190
Finding
Depression located on the vermilion of the lower lip, usually paramedian.
Cleft upper lip
MedGen UID:
504391
Concept ID:
CN000197
Finding
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Thin vermilion border
MedGen UID:
504403
Concept ID:
CN000225
Finding
Reduced width of the \
Choanal atresia
MedGen UID:
504447
Concept ID:
CN000423
Finding
Absence or abnormal closure of the choana (the posterior nasal aperture).
Abnormality of the palpebral fissures
MedGen UID:
429185
Concept ID:
CN007077
Finding
An anomaly of the space between the medial and lateral canthi of the two open eyelids.
Fibrous syngnathia
MedGen UID:
501064
Concept ID:
CN008613
Finding
Complete or nearly complete soft tissue fusion of the alveolar ridges.
Ankyloblepharon
MedGen UID:
506311
Concept ID:
CN008614
Finding
Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.
Lip pit
MedGen UID:
506460
Concept ID:
CN117163
Finding
A depression located on a lip.
Non-midline cleft lip
MedGen UID:
451693
Concept ID:
CN117231
Finding
Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Dementia
MedGen UID:
504574
Concept ID:
CN000683
Finding
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Spina bifida occulta
MedGen UID:
505509
Concept ID:
CN002976
Finding
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
Finger syndactyly
MedGen UID:
376634
Concept ID:
C1849671
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Popliteal pterygium
MedGen UID:
811750
Concept ID:
C3805420
Finding
Intercrural pterygium
MedGen UID:
816801
Concept ID:
C3810471
Finding
Abnormality of the ribs
MedGen UID:
427835
Concept ID:
CN000726
Finding
An anomaly of the rib.
Split hand
MedGen UID:
504754
Concept ID:
CN001098
Finding
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Limitation of joint mobility
MedGen UID:
446405
Concept ID:
CN001260
Finding
A reduction in the freedom of movement of one or more joints.
Toe syndactyly
MedGen UID:
504947
Concept ID:
CN001609
Finding
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Spina bifida occulta
MedGen UID:
505509
Concept ID:
CN002976
Finding
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
Fibrous syngnathia
MedGen UID:
501064
Concept ID:
CN008613
Finding
Complete or nearly complete soft tissue fusion of the alveolar ridges.
Cutaneous finger syndactyly
MedGen UID:
429584
Concept ID:
CN009385
Finding
A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.
Popliteal pterygium
MedGen UID:
811750
Concept ID:
C3805420
Finding
Intercrural pterygium
MedGen UID:
816801
Concept ID:
C3810471
Finding
Abnormality of the toenails
MedGen UID:
825598
Concept ID:
C3839753
Finding
Lower lip pit
MedGen UID:
504388
Concept ID:
CN000190
Finding
Depression located on the vermilion of the lower lip, usually paramedian.
Hypertrichosis
MedGen UID:
504680
Concept ID:
CN000934
Finding
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Pyramidal skinfold extending from the base to the top of the nails
MedGen UID:
447120
Concept ID:
CN008617
Finding
Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.
Lip pit
MedGen UID:
506460
Concept ID:
CN117163
Finding
A depression located on a lip.
Talipes equinovarus
MedGen UID:
335852
Concept ID:
C1842988
Finding
Finger syndactyly
MedGen UID:
376634
Concept ID:
C1849671
Finding
Split hand
MedGen UID:
504754
Concept ID:
CN001098
Finding
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Toe syndactyly
MedGen UID:
504947
Concept ID:
CN001609
Finding
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Talipes
MedGen UID:
504986
Concept ID:
CN001703
Finding
A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
Cutaneous finger syndactyly
MedGen UID:
429584
Concept ID:
CN009385
Finding
A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGPopliteal pterygium syndrome

Recent clinical studies

Etiology

Gripp KW, Ennis S, Napoli J
Am J Med Genet A 2013 May;161A(5):1058-63. doi: 10.1002/ajmg.a.35913. PMID: 23610050
Matsuzawa N, Kondo S, Shimozato K, Nagao T, Nakano M, Tsuda M, Hirano A, Niikawa N, Yoshiura K
Am J Med Genet A 2010 Sep;152A(9):2262-7. doi: 10.1002/ajmg.a.33338. PMID: 20803643
Kim HM, Park IJ, Jeong C
Clin Orthop Surg 2009 Dec;1(4):236-9. Epub 2009 Nov 25 doi: 10.4055/cios.2009.1.4.236. PMID: 19956482Free PMC Article
Spauwen PH, Cobben JM, Gardeniers JW
J Craniomaxillofac Surg 1994 Oct;22(5):276-80. PMID: 7798358
Bixler D, Poland C, Nance WE
Clin Genet 1973;4(3):220-8. PMID: 4203060

Diagnosis

Bahetwar SK, Pandey RK, Bahetwar TS
J Indian Soc Pedod Prev Dent 2011 Oct-Dec;29(4):333-5. doi: 10.4103/0970-4388.86382. PMID: 22016320
Eshete M, Befikadu S
Ethiop Med J 2009 Jan;47(2):175-7. PMID: 19743799
Bertelè G, Mercanti M, Gangini GN, Carletti V
Minerva Stomatol 2008 Jun;57(6):309-22. PMID: 18617879
Soekarman D, Cobben JM, Vogels A, Spauwen PH, Fryns JP
Clin Genet 1995 Apr;47(4):169-74. PMID: 7628117
Khan SN, Hufnagle KG, Pool R
Cleft Palate J 1986 Jul;23(3):233-6. PMID: 3460725

Therapy

Solignac N, Vialle R, Thévenin-Lemoine C, Damsin JP
Orthop Traumatol Surg Res 2009 May;95(3):196-201. Epub 2009 May 1 doi: 10.1016/j.otsr.2009.01.004. [Epub ahead of print] PMID: 19410531
de Lima RL, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC
Genet Med 2009 Apr;11(4):241-7. doi: 10.1097/GIM.0b013e318197a49a. PMID: 19282774Free PMC Article

Prognosis

Leslie EJ, Standley J, Compton J, Bale S, Schutte BC, Murray JC
Genet Med 2013 May;15(5):338-44. Epub 2012 Nov 15 doi: 10.1038/gim.2012.141. [Epub ahead of print] PMID: 23154523Free PMC Article
Kalay E, Sezgin O, Chellappa V, Mutlu M, Morsy H, Kayserili H, Kreiger E, Cansu A, Toraman B, Abdalla EM, Aslan Y, Pillai S, Akarsu NA
Am J Hum Genet 2012 Jan 13;90(1):76-85. Epub 2011 Dec 22 doi: 10.1016/j.ajhg.2011.11.014. [Epub ahead of print] PMID: 22197489Free PMC Article
de Lima RL, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC
Genet Med 2009 Apr;11(4):241-7. doi: 10.1097/GIM.0b013e318197a49a. PMID: 19282774Free PMC Article
Little HJ, Rorick NK, Su LI, Baldock C, Malhotra S, Jowitt T, Gakhar L, Subramanian R, Schutte BC, Dixon MJ, Shore P
Hum Mol Genet 2009 Feb 1;18(3):535-45. Epub 2008 Nov 26 doi: 10.1093/hmg/ddn381. [Epub ahead of print] PMID: 19036739Free PMC Article
Bertelè G, Mercanti M, Gangini GN, Carletti V
Minerva Stomatol 2008 Jun;57(6):309-22. PMID: 18617879

Clinical prediction guides

Leslie EJ, Standley J, Compton J, Bale S, Schutte BC, Murray JC
Genet Med 2013 May;15(5):338-44. Epub 2012 Nov 15 doi: 10.1038/gim.2012.141. [Epub ahead of print] PMID: 23154523Free PMC Article
Kalay E, Sezgin O, Chellappa V, Mutlu M, Morsy H, Kayserili H, Kreiger E, Cansu A, Toraman B, Abdalla EM, Aslan Y, Pillai S, Akarsu NA
Am J Hum Genet 2012 Jan 13;90(1):76-85. Epub 2011 Dec 22 doi: 10.1016/j.ajhg.2011.11.014. [Epub ahead of print] PMID: 22197489Free PMC Article
Matsuzawa N, Kondo S, Shimozato K, Nagao T, Nakano M, Tsuda M, Hirano A, Niikawa N, Yoshiura K
Am J Med Genet A 2010 Sep;152A(9):2262-7. doi: 10.1002/ajmg.a.33338. PMID: 20803643
de Lima RL, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC
Genet Med 2009 Apr;11(4):241-7. doi: 10.1097/GIM.0b013e318197a49a. PMID: 19282774Free PMC Article
Little HJ, Rorick NK, Su LI, Baldock C, Malhotra S, Jowitt T, Gakhar L, Subramanian R, Schutte BC, Dixon MJ, Shore P
Hum Mol Genet 2009 Feb 1;18(3):535-45. Epub 2008 Nov 26 doi: 10.1093/hmg/ddn381. [Epub ahead of print] PMID: 19036739Free PMC Article

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