Pai syndrome

Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.



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Narrow down the case reports



Total: 22 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(44.3%)		 22987662
 Atypical findings in three patients with Pai syndrome and literature review.
Lederer D, Wilson B, Lefesvre P, Poorten VV, Kirkham N, Mitra D, Verellen-Dumoulin C, Devriendt K.
Am J Med Genet A. 2012;158A(11):2899-904.
Sacral dimple Cleft lip
Brain Child Facies Females Homo sapiens Infant, Newborn Lipoma Magnetic Resonance Imaging Male Nasal Polyps Phenotype
2
(44.1%)		 28126651
 Ocular dermoid in Pai Syndrome: A review.
Tormey P, Bilic Cace I, Boyle MA.
Eur J Med Genet. 2017;60(4):217-219.
Limbal dermoid Lipoma Cleft lip
SERPINE1
Brain Dermoid Cyst Females Homo sapiens Infant, Newborn Lipoma Magnetic Resonance Imaging Nasal Polyps Ultrasonography
3
(43.4%)		 23610859
 Prenatal detection of Pai syndrome without cleft lip and palate: a case report.
Ocak Z, Yazicioglu HF, Aygun M, Ilter MK, Ozlu T.
Genet Couns. 2013;24(1):1-5.
Median cleft lip Midline central nervous system lipomas
Adult Brain Cleft Palate Differential Diagnosis Echoencephalography Females Homo sapiens Infant, Newborn Lipoma Magnetic Resonance Imaging Male Nasal Polyps Pregnancy Skin Neoplasms Ultrasonography, Prenatal
4
(41.0%)		 24748063
 Pai syndrome: challenging prenatal diagnosis and management.
Blouet M, Belloy F, Jeanne-Pasquier C, Leporrier N, Benoist G.
Pediatr Radiol. 2014;44(9):1184-7.
Lipoma Cleft lip
Abortion, Eugenic Adult Differential Diagnosis Females Homo sapiens Lipoma Magnetic Resonance Imaging Nasal Polyps Pregnancy Ultrasonography, Prenatal
4
(41.0%)		 17907143
 Pai syndrome: report of seven South American patients.
Guion-Almeida ML, Mellado C, Beltran C, Richieri-Costa A.
Am J Med Genet A. 2007;143A(24):3273-9.
Lipoma Cleft lip
ALX3
Brain Child Child, Preschool Craniofacial Abnormalities Facies Females Homo sapiens Infant Magnetic Resonance Imaging Male Nose Syndrome
6
(38.4%)		 9915178
 A case of Pai syndrome.
Mishima K, Mori Y, Minami K, Sakuda M, Sugahara T.
Plast Reconstr Surg. 1999;103(1):166-70.
Lipoma Conjunctival lipoma
SERPINE1
Brain Neoplasms Conjunctival Neoplasms Corpus Callosum Females Homo sapiens Infant, Newborn Lipoma Nasal Polyps Neoplasms, Multiple Primary Syndrome
7
(35.3%)		 24560239
 Nasal septal lipoma in a child: Pai syndrome or not?
AbdollahiFakhim S, Bayazian G, Notash R.
Int J Pediatr Otorhinolaryngol. 2014;78(4):697-700.
Nasal obstruction Lipoma
SERPINE1
Brain Neoplasms Child Differential Diagnosis Females Follow-Up Studies Health Risk Assessment Homo sapiens Lipoma Magnetic Resonance Imaging Nasal Polyps Nose Neoplasms X-Ray Computed Tomography
7
(35.3%)		 22042063
 [Unilateral nasal obstruction in children: Pai syndrome].
Zanetta A, Cuestas G, Oviedo M, Tiscorni C.
Arch Argent Pediatr. 2011;109(5):e100-3.
Nasal obstruction Lipoma
SERPINE1
Homo sapiens Infant Lipoma Male Nasal Polyps Phenotype
9
(34.4%)		 25359433
 Pre- and postnatal imaging of Pai syndrome with spontaneous intrauterine closure of a frontal cephalocele.
Dobrocky T, Ebner L, Liniger B, Weisstanner C, Stranzinger E.
Pediatr Radiol. 2015;45(6):936-40.
Median cleft lip
SERPINE1
Females Homo sapiens Infant, Newborn Lipoma Magnetic Resonance Imaging Nasal Polyps Pregnancy Ultrasonography, Prenatal
10
(32.1%)		 16760735
 Midline cleft lip and nasal dermoids over five generations: a distinct entity or autosomal dominant Pai syndrome?
Lees MM, Connelly F, Kangesu L, Sommerlad B, Barnicoat A.
Clin Dysmorphol. 2006;15(3):155-9.
Cleft lip
Dermoid Cyst Females Genes, Dominant Homo sapiens Infant Male Nose Neoplasms Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 16

HPO ID Term Frequency
HP:0000161 Median cleft lip Very frequent (99-80%)
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0001482 Subcutaneous nodule Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0006866 Midline central nervous system lipomas Very frequent (99-80%)
HP:0010609 Skin tags Very frequent (99-80%)
HP:0100582 Nasal polyposis Very frequent (99-80%)
HP:0000190 Abnormal oral frenulum morphology Frequent (79-30%)
HP:0000193 Bifid uvula Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000506 Telecanthus Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Occasional (29-5%)
HP:0000612 Iris coloboma Occasional (29-5%)
HP:0002084 Encephalocele Occasional (29-5%)
HP:0004122 Midline defect of the nose Occasional (29-5%)
HP:0007370 Aplasia/Hypoplasia of the corpus callosum Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 10

HPO ID Term # of case reports
HP:0012032 Lipoma 11
HP:0410030 Cleft lip 5
HP:0000161 Median cleft lip 2
HP:0000316 Hypertelorism 2
HP:0000047 Hypospadias 1
HP:0000960 Sacral dimple 1
HP:0001742 Nasal obstruction 1
HP:0002878 Respiratory failure 1
HP:0006866 Midline central nervous system lipomas 1
HP:0011502 Posterior lenticonus 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID