MCID: CLF045
MIFTS: 29

Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa

Categories: Bone diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal...

MalaCards integrated aliases for Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa:

Name: Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 57
Pai Syndrome 57 53 59
Median Cleft of the Upper Lip-Corpus Callosum Lipoma-Cutaneous Polyps Syndrome 53 59
Median Cleft of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 53
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 73

Characteristics:

Orphanet epidemiological data:

59
pai syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
all reported cases have been isolated


HPO:

32
cleft, median, of upper lip with polyps of facial skin and nasal mucosa:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 155145
Orphanet 59 ORPHA1993
UMLS via Orphanet 74 C1835087
ICD10 via Orphanet 34 Q87.8
MedGen 42 C1835087
UMLS 73 C1835087

Summaries for Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal...

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1993Disease definitionPai 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.EpidemiologyPS has been reported in 33 patients to date, however, the incidence seems to be underestimated.Clinical descriptionPS presents at birth with a variable phenotype ranging from mild facial dysmorphism to more severe anomalies resembling frontonasal dysplasia (see this term). Most patients present with a marked hypertelorism with downward slanting palpebral fissures and may include a bifid nose in the most extreme cases. Midline cleft lip with midline nasal and facial polyps manifest generally as a bifid uvula with high palate, polyps are located over the nasal septum or extend from the nostril from an attachment to the nasal septum. These anomalies may lead to respiratory impairment, increased respiratory infections, speech impediments or early childhood difficulties in eating solids. Skin lipomas containing cartilage may be seen on the forehead. Ocular anomalies may include anterior segment dysgenesis, persistent papillary membrane, corneal leukoma, microcornea, posterior lenticonus, heterochromia iris and conjunctival lipoma. Coloboma of the iris has been reported in one case. Normal neuropsychological development was reported in all but one case that presented with epileptic seizures. Sacral dimples may be observed at birth, and hypospadias has been reported in some male patients.EtiologyThe etiology of PS is unknown.Diagnostic methodsPS is diagnosed strictly by clinical signs, the presence of a congenital nasal polyp plus one or more of the three following traits: MCL (with or without cleft alveolus), mid-anterior alveolar process congenital polyp and pericallosal lipoma. MRI may reveal pericallosal lipomas and an abnormal configuration of the third ventricle.Differential diagnosisDifferential diagnoses include Loeys-Dietz syndrome, oculocerebrocutaneous syndrome, frontonasal dysplasia, Goldenhar syndrome (see these terms), as well as a variety of chromosomal anomalies.Genetic counselingOne case of father to son transmission has been reported to date, but no recurrence in sibs has ever been reported. Recurrence risk in families with no history or PS is therefore thought to be low.Management and treatmentDetection of potential oral or respiratory difficulties in newborns must be treated immediately. Multistage craniofacial surgery may be necessary in many cases. Surgical restoration of orbicular muscle continuity and excision of skin lipomas may be performed early in childhood, correction of the nasal pyramid should be performed after the pubertal growth spurt. In patients presenting with ocular anomalies, corneal or cataract surgery may improve vision in some cases, and optical iridectomy may be necessary in cases presenting with corneal leukoma. All patients should be regularly monitored for increases in intraocular pressure.PrognosisBoth cosmetic and functional restoration of buccal and nasal anomalies is feasible and the prognosis is good for most patients.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa, also known as pai syndrome, is related to cleft lip and lipomatosis, multiple. Affiliated tissues include skin, bone and eye, and related phenotypes are hypertelorism and depressed nasal bridge

OMIM : 57 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). (155145)

Related Diseases for Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal...

Diseases related to Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cleft lip 9.9
2 lipomatosis, multiple 9.8
3 pleomorphic lipoma 9.8
4 corpus callosum lipoma 9.8
5 bifid nose 9.8
6 cleft palate, isolated 9.7
7 skin tag 9.7
8 cleft lip/palate 9.7

Graphical network of the top 20 diseases related to Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa:



Diseases related to Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa

Symptoms & Phenotypes for Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
iris coloboma
downslanting palpebral fissures

Head And Neck Face:
broad forehead

Head And Neck Nose:
nasal mucosal polyps

Head And Neck Mouth:
high palate
bifid uvula
median cleft upper lip

Neurologic Central Nervous System:
midline central nervous system lipomas

Skin Nails Hair Skin:
facial skin polyps
skin tags containing cartilage on forehead


Clinical features from OMIM:

155145

Human phenotypes related to Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
3 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
4 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
5 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
6 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
7 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
8 nasal polyposis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100582
9 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
10 encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002084
11 bifid uvula 59 32 frequent (33%) Frequent (79-30%) HP:0000193
12 median cleft lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000161
13 skin tags 59 32 hallmark (90%) Very frequent (99-80%) HP:0010609
14 midline defect of the nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0004122
15 midline central nervous system lipomas 59 32 hallmark (90%) Very frequent (99-80%) HP:0006866
16 high palate 32 HP:0000218
17 broad forehead 32 HP:0000337
18 abnormality of oral frenula 59 Frequent (79-30%)
19 abnormal oral frenulum morphology 32 frequent (33%) HP:0000190

Drugs & Therapeutics for Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal...

Search Clinical Trials , NIH Clinical Center for Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa

Genetic Tests for Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal...

Anatomical Context for Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal...

MalaCards organs/tissues related to Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa:

41
Skin, Bone, Eye

Publications for Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal...

Articles related to Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal Mucosa:

(show all 24)
# Title Authors Year
1
Ophthalmic abnormalities of Pai syndrome: A case report and review of literature. ( 29116865 )
2018
2
Mental Development and Surgical Prognosis of Pai Syndrome: A Case Report and Review of the Literature. ( 29665340 )
2018
3
Diagnostic criteria in Pai syndrome: results of a case series and a literature review. ( 30195458 )
2018
4
Lipoma of Columella with septal extension in Pai syndrome: report of a rare case. ( 28184174 )
2017
5
Ocular dermoid in Pai Syndrome: A review. ( 28126651 )
2017
6
Pre- and postnatal imaging of Pai syndrome with spontaneous intrauterine closure of a frontal cephalocele. ( 25359433 )
2015
7
Pai syndrome: median cleft lip, corpus callosum lipoma, and fibroepithelial skin tag. ( 24741390 )
2014
8
Nasal septal lipoma in a child: Pai syndrome or not? ( 24560239 )
2014
9
Pai syndrome: challenging prenatal diagnosis and management. ( 24748063 )
2014
10
Prenatal detection of Pai syndrome without cleft lip and palate: a case report. ( 23610859 )
2013
11
Pai syndrome: first reported case in Qatar and review of literature of previously published cases. ( 22914230 )
2012
12
Atypical findings in three patients with Pai syndrome and literature review. ( 22987662 )
2012
13
Severe midline craniofacial anomalies: overlap with Pai syndrome. ( 19300243 )
2009
14
Pai syndrome: a further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum. ( 18369643 )
2008
15
Phenotypic variability of Pai syndrome: report of two patients and review of the literature. ( 18657395 )
2008
16
Pericallosal lipoma associated with Pai syndrome: prenatal imaging findings. ( 18781581 )
2008
17
Pai syndrome: first patient with agenesis of the corpus callosum and literature review. ( 17803202 )
2007
18
Pai syndrome: report of seven South American patients. ( 17907143 )
2007
19
Midline cleft lip and nasal dermoids over five generations: a distinct entity or autosomal dominant Pai syndrome? ( 16760735 )
2006
20
Pai syndrome (median cleft palate, cutaneous nasal polyp, and midline lipoma of the corpus callosum): a case report and literature review. ( 15927272 )
2005
21
Pai syndrome: an adult patient with bifid nose and frontal hairline marker. ( 12733964 )
2003
22
Pai syndrome: a report of a case and review of the literature. ( 11589982 )
2001
23
A case of Pai syndrome. ( 9915178 )
1999
24
A further patient with Pai syndrome with autosomal dominant inheritance? ( 8071979 )
1994

Variations for Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal...

Expression for Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal...

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Pathways for Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal...

GO Terms for Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal...

Sources for Cleft, Median, of Upper Lip with Polyps of Facial Skin and Nasal...

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