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Pai syndrome

MedGen UID:
371972
Concept ID:
C1835087
Disease or Syndrome
Synonym: Median cleft of upper lip with polyps of facial skin and nasal mucosa
SNOMED CT: Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (722201004); Pai syndrome (722201004)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0007956
OMIM®: 155145
Orphanet: ORPHA1993

Definition

Pai syndrome is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma, ocular anomalies, and normal neuropsychologic development (Guion-Almeida et al., 2007). [from OMIM]

Clinical features

From HPO
Midline central nervous system lipomas
MedGen UID:
870525
Concept ID:
C4024973
Neoplastic Process
Nasal polyposis
MedGen UID:
6524
Concept ID:
C0027430
Anatomical Abnormality
Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Broad forehead
MedGen UID:
338610
Concept ID:
C1849089
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Median cleft upper lip
MedGen UID:
342454
Concept ID:
C1850256
Congenital Abnormality
A type of cleft lip presenting as a midline (median) gap in the upper lip.
Bifid uvula
MedGen UID:
1646931
Concept ID:
C4551488
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
Skin tags
MedGen UID:
11452
Concept ID:
C0037293
Neoplastic Process
Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPai syndrome
Follow this link to review classifications for Pai syndrome in Orphanet.

Professional guidelines

PubMed

Lehalle D, Bruel AL, Vitobello A, Denommé-Pichon AS, Duffourd Y, Assoum M, Amiel J, Baujat G, Bessieres B, Bigoni S, Burglen L, Captier G, Dard R, Edery P, Fortunato F, Geneviève D, Goldenberg A, Guibaud L, Héron D, Holder-Espinasse M, Lederer D, Lopez Grondona F, Grotto S, Marlin S, Nadeau G, Picard A, Rossi M, Roume J, Sanlaville D, Saugier-Veber P, Triau S, Valenzuela Palafoll MI, Vanlerberghe C, Van Maldergem L, Vezain M, Vincent-Delorme C, Zivi E, Thevenon J, Vabres P, Thauvin-Robinet C, Callier P, Faivre L
Am J Med Genet A 2022 Jul;188(7):2036-2047. Epub 2022 Apr 21 doi: 10.1002/ajmg.a.62739. PMID: 35445792
Demir CI, Yaşar EK, Bayrak BY, Işik H, Alagöz MŞ
J Craniofac Surg 2021 Jan-Feb 01;32(1):e31-e32. doi: 10.1097/SCS.0000000000006845. PMID: 32796311
Joigneau Prieto L, Ruiz Y, Pérez R, De León Luis J
Eur J Paediatr Neurol 2019 Nov;23(6):764-782. Epub 2019 Sep 25 doi: 10.1016/j.ejpn.2019.09.009. PMID: 31587959

Recent clinical studies

Etiology

Kudaş S, Dönmez G, Işık Ç, Çelebi M, Çay N, Bozkurt M
Acta Orthop Traumatol Turc 2016 Dec;50(6):649-654. Epub 2016 Dec 3 doi: 10.1016/j.aott.2016.03.008. PMID: 27919560Free PMC Article
AbdollahiFakhim S, Bayazian G, Notash R
Int J Pediatr Otorhinolaryngol 2014 Apr;78(4):697-700. Epub 2014 Jan 31 doi: 10.1016/j.ijporl.2014.01.027. PMID: 24560239
da Silva Freitas R, Alonso N, Shin JH, Busato L, Ono MC, Cruz GA
J Craniofac Surg 2008 Sep;19(5):1348-52. doi: 10.1097/SCS.0b013e318184326e. PMID: 18812861
Al-Mazrou KA, Al-Rekabi A, Alorainy IA, Al-Kharfi T, Al-Serhani AM
Int J Pediatr Otorhinolaryngol 2001 Nov 1;61(2):149-53. doi: 10.1016/s0165-5876(01)00555-9. PMID: 11589982
Bureau NJ, Cardinal E, Hobden R, Aubin B
Radiology 2000 May;215(2):497-503. doi: 10.1148/radiology.215.2.r00ma01497. PMID: 10796931

Diagnosis

Lehalle D, Bruel AL, Vitobello A, Denommé-Pichon AS, Duffourd Y, Assoum M, Amiel J, Baujat G, Bessieres B, Bigoni S, Burglen L, Captier G, Dard R, Edery P, Fortunato F, Geneviève D, Goldenberg A, Guibaud L, Héron D, Holder-Espinasse M, Lederer D, Lopez Grondona F, Grotto S, Marlin S, Nadeau G, Picard A, Rossi M, Roume J, Sanlaville D, Saugier-Veber P, Triau S, Valenzuela Palafoll MI, Vanlerberghe C, Van Maldergem L, Vezain M, Vincent-Delorme C, Zivi E, Thevenon J, Vabres P, Thauvin-Robinet C, Callier P, Faivre L
Am J Med Genet A 2022 Jul;188(7):2036-2047. Epub 2022 Apr 21 doi: 10.1002/ajmg.a.62739. PMID: 35445792
Olivero F, Foiadelli T, Luzzi S, Marseglia GL, Savasta S
Childs Nerv Syst 2020 Nov;36(11):2635-2640. Epub 2020 Jul 10 doi: 10.1007/s00381-020-04788-z. PMID: 32651596Free PMC Article
Pérez CG, Carrera Fernández S, Rodríguez D'Aquila A
Acta Otorrinolaringol Esp (Engl Ed) 2020 May-Jun;71(3):195-196. Epub 2019 Jun 10 doi: 10.1016/j.otorri.2019.02.006. PMID: 31196564
Blouet M, Belloy F, Jeanne-Pasquier C, Leporrier N, Benoist G
Pediatr Radiol 2014 Sep;44(9):1184-7. Epub 2014 Apr 20 doi: 10.1007/s00247-014-2966-4. PMID: 24748063
Lee JC, Calder JD, Healy JC
Semin Musculoskelet Radiol 2008 Jun;12(2):154-69. doi: 10.1055/s-2008-1078703. PMID: 18509795

Prognosis

Joigneau Prieto L, Ruiz Y, Pérez R, De León Luis J
Eur J Paediatr Neurol 2019 Nov;23(6):764-782. Epub 2019 Sep 25 doi: 10.1016/j.ejpn.2019.09.009. PMID: 31587959
Imai Y, Kure S, Nara C, Takagi N, Tachi M
Cleft Palate Craniofac J 2019 Feb;56(2):273-279. Epub 2018 Apr 17 doi: 10.1177/1055665618771419. PMID: 29665340
AbdollahiFakhim S, Bayazian G, Notash R
Int J Pediatr Otorhinolaryngol 2014 Apr;78(4):697-700. Epub 2014 Jan 31 doi: 10.1016/j.ijporl.2014.01.027. PMID: 24560239
Al-Mazrou KA, Al-Rekabi A, Alorainy IA, Al-Kharfi T, Al-Serhani AM
Int J Pediatr Otorhinolaryngol 2001 Nov 1;61(2):149-53. doi: 10.1016/s0165-5876(01)00555-9. PMID: 11589982

Clinical prediction guides

Kudaş S, Dönmez G, Işık Ç, Çelebi M, Çay N, Bozkurt M
Acta Orthop Traumatol Turc 2016 Dec;50(6):649-654. Epub 2016 Dec 3 doi: 10.1016/j.aott.2016.03.008. PMID: 27919560Free PMC Article
Castori M, Rinaldi R, Bianchi A, Caponetti A, Assumma M, Grammatico P
Birth Defects Res A Clin Mol Teratol 2007 Oct;79(10):673-9. doi: 10.1002/bdra.20392. PMID: 17803202

Recent systematic reviews

Joigneau Prieto L, Ruiz Y, Pérez R, De León Luis J
Eur J Paediatr Neurol 2019 Nov;23(6):764-782. Epub 2019 Sep 25 doi: 10.1016/j.ejpn.2019.09.009. PMID: 31587959

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