MCID: CLF045
MIFTS: 27

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 56
Pai Syndrome 56 52 58
Median Cleft of the Upper Lip-Corpus Callosum Lipoma-Midline Facial Cutaneous Polyps Syndrome 52 58
Median Cleft of the Upper Lip-Corpus Callosum Lipoma-Cutaneous Polyps Syndrome 52
Median Cleft of Upper Lip with Polyps of Facial Skin and Nasal Mucosa 52
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 71

Characteristics:

Orphanet epidemiological data:

58
pai syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
all reported cases have been isolated


HPO:

31
cleft, median, of upper lip with polyps of facial skin and nasal mucosa:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 155145
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1835087
Orphanet 58 ORPHA1993
MedGen 41 C1835087
UMLS 71 C1835087

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

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1993 Definition A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. Epidemiology Pai syndrome (PS) has been reported in 67 patients to date, however, the incidence seems to be underestimated. Clinical description PS presents at birth with a variable phenotype ranging from mild facial dysmorphism to more severe anomalies resembling frontonasal dysplasia. 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. Neuropsychological development is usually normal, but some patients may present with epilepsy and impaired neuropsychological development. Sacral dimples may be observed at birth, and hypospadias has been reported in some male patients. Etiology The etiology of PS is unknown. Diagnostic methods PS 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. An ophthalomogical exam is recommended. Differential diagnosis Differential diagnoses include Loeys-Dietz syndrome, oculocerebrocutaneous syndrome, frontonasal dysplasia, Goldenhar syndrome, as well as a variety of chromosomal anomalies. Genetic counseling One 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 of PS is therefore thought to be low. Management and treatment Detection 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. Prognosis Both 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 lipomatosis, multiple and pleomorphic lipoma. Affiliated tissues include skin, bone and eye, and related phenotypes are depressed nasal bridge and subcutaneous nodule

OMIM : 56 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:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 lipomatosis, multiple 10.4
2 pleomorphic lipoma 10.4
3 cleft lip 10.2
4 corpus callosum lipoma 10.0
5 hypertelorism 9.9
6 cleft palate, isolated 9.8
7 frontonasal dysplasia 1 9.8
8 skin tag 9.8
9 alopecia 9.8
10 bifid nose 9.8
11 cleft lip/palate 9.8
12 coloboma of macula 9.7
13 attention deficit-hyperactivity disorder 9.7
14 corpus callosum, agenesis of 9.7
15 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.7
16 hypospadias 9.7
17 respiratory failure 9.7
18 central nervous system lipoma 9.7
19 encephalocele 9.7
20 facial cleft 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...

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

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
2 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
3 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
4 nasal polyposis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100582
5 median cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000161
6 skin tags 58 31 hallmark (90%) Very frequent (99-80%) HP:0010609
7 midline central nervous system lipomas 58 31 hallmark (90%) Very frequent (99-80%) HP:0006866
8 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
9 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
10 abnormal oral frenulum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000190
11 bifid uvula 58 31 frequent (33%) Frequent (79-30%) HP:0000193
12 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
13 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
14 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
15 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
16 midline defect of the nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0004122
17 high palate 31 HP:0000218
18 broad forehead 31 HP:0000337

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
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 40)
# Title Authors PMID Year
1
Pai syndrome: report of seven South American patients. 61 56
17907143 2007
2
Midline cleft lip and nasal dermoids over five generations: a distinct entity or autosomal dominant Pai syndrome? 61 56
16760735 2006
3
Pai syndrome: a report of a case and review of the literature. 61 56
11589982 2001
4
Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2). 61 56
9391896 1997
5
A further patient with Pai syndrome with autosomal dominant inheritance? 61 56
8071979 1994
6
Median clefting of the upper lip associated with cutaneous polyps. 56
2352264 1990
7
Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps. 56
3591835 1987
8
True median cleft of the upper lip associated with three pedunculated club-shaped skin masses. 56
3983280 1985
9
Midline cleft lip with associated abnormalities. 56
839140 1977
10
Median cleft of the upper lip. 56
4812024 1974
11
Prenatal diagnosis of pericallosal lipoma: Systematic review. 61
31587959 2019
12
'Pai Syndrome' with anterior alveolar polyp: A variant of a rare clinical entity. 61
31256179 2019
13
Nasal and lip polyps: Pai syndrome. 61
31196564 2019
14
Diagnostic criteria in Pai syndrome: results of a case series and a literature review. 61
30195458 2019
15
Mental Development and Surgical Prognosis of Pai Syndrome: A Case Report and Review of the Literature. 61
29665340 2019
16
[Pai syndrome: Two new cases with unusual manifestations]. 61
29557629 2018
17
Ophthalmic abnormalities of Pai syndrome: A case report and review of literature. 61
29116865 2018
18
Ocular dermoid in Pai Syndrome: A review. 61
28126651 2017
19
Lipoma of Columella with septal extension in Pai syndrome: report of a rare case. 61
28184174 2017
20
Posterior ankle impingement syndrome in football players: Case series of 26 elite athletes. 61
27919560 2016
21
A Diagnostic Conundrum: Ectopic Nasal Ossification, Submucosal Alveolar Cleft, Absent Posterior Atlantal Arch, and Corpus Callosum Lipoma. 61
25291089 2015
22
Pre- and postnatal imaging of Pai syndrome with spontaneous intrauterine closure of a frontal cephalocele. 61
25359433 2015
23
Pai syndrome: challenging prenatal diagnosis and management. 61
24748063 2014
24
Nasal septal lipoma in a child: Pai syndrome or not? 61
24560239 2014
25
Pai syndrome: median cleft lip, corpus callosum lipoma, and fibroepithelial skin tag. 61
24741390 2014
26
Prenatal detection of Pai syndrome without cleft lip and palate: a case report. 61
23610859 2013
27
Atypical findings in three patients with Pai syndrome and literature review. 61
22987662 2012
28
Pai syndrome: first reported case in Qatar and review of literature of previously published cases. 61
22914230 2012
29
[Unilateral nasal obstruction in children: Pai syndrome]. 61
22042063 2011
30
Severe midline craniofacial anomalies: overlap with Pai syndrome. 61
19300243 2009
31
Phenotypic variability of Pai syndrome: report of two patients and review of the literature. 61
18657395 2008
32
Pericallosal lipoma associated with Pai syndrome: prenatal imaging findings. 61
18781581 2008
33
Surgical correction of Tessier number 0 cleft. 61
18812861 2008
34
Posterior impingement syndromes of the ankle. 61
18509795 2008
35
Pai syndrome: a further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum. 61
18369643 2008
36
Pai syndrome: first patient with agenesis of the corpus callosum and literature review. 61
17803202 2007
37
Pai syndrome (median cleft palate, cutaneous nasal polyp, and midline lipoma of the corpus callosum): a case report and literature review. 61
15927272 2005
38
Pai syndrome: an adult patient with bifid nose and frontal hairline marker. 61
12733964 2003
39
Posterior ankle impingement syndrome: MR imaging findings in seven patients. 61
10796931 2000
40
A case of Pai syndrome. 61
9915178 1999

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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