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Cleft lip/palate-deafness-sacral lipoma syndrome

MedGen UID:
905203
•Concept ID:
C4274888
•
Disease or Syndrome
Synonyms: cleft lip/palate-deafness-sacral lipoma syndrome; Cleft lip/palate-hearing loss-sacral lipoma syndrome; Cleft palate and cleft lip with deafness and sacral lipoma syndrome; Lowry Yong syndrome; Lowry-Yong syndrome
SNOMED CT: Lowry Yong syndrome (716007007); Cleft palate and cleft lip with deafness and sacral lipoma syndrome (716007007)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016059
Orphanet: ORPHA2003

Definition

This syndrome is characterized by cleft lip and palate, profound sensorineural deafness and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings include appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCleft lip/palate-deafness-sacral lipoma syndrome

Professional guidelines

PubMed

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
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
First Report of Pai Syndrome With Upper Alveolar Cavernous Hemangioma: Diagnosis and Surgical Treatment.
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
The median cleft face syndrome. Differential diagnosis of cranium bifidum occultum, hypertelorism, and median cleft nose, lip, and palate.
DeMyer W
Neurology 1967 Oct;17(10):961-71. doi: 10.1212/wnl.17.10.961. PMID: 6069608

Recent clinical studies

Etiology

Nasal septal lipoma in a child: Pai syndrome or not?
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
Surgical correction of Tessier number 0 cleft.
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
Pai syndrome: a report of a case and review of the literature.
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
A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.
Lapunzina P, Badia I, Galoppo C, De Matteo E, Silberman P, Tello A, Grichener J, Hughes-Benzie R
J Med Genet 1998 Feb;35(2):153-6. doi: 10.1136/jmg.35.2.153. PMID: 9507397Free PMC Article

Diagnosis

Pai syndrome: a review.
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
'Pai Syndrome' with anterior alveolar polyp: A variant of a rare clinical entity.
Debnath KK, Kanapaty Y, Yong DJ, Chandran S, Bakri A
Med J Malaysia 2019 Jun;74(3):229-230. PMID: 31256179
Ophthalmic abnormalities of Pai syndrome: A case report and review of literature.
Li E, Galvin JA
Ophthalmic Genet 2018 Apr;39(2):282-285. Epub 2017 Nov 8 doi: 10.1080/13816810.2017.1381979. PMID: 29116865
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 Jun;45(6):936-40. Epub 2014 Oct 31 doi: 10.1007/s00247-014-3205-8. PMID: 25359433
Phenotypic variability of Pai syndrome: report of two patients and review of the literature.
Vaccarella F, Pini Prato A, Fasciolo A, Pisano M, Carlini C, Seymandi PL
Int J Oral Maxillofac Surg 2008 Nov;37(11):1059-64. Epub 2008 Jul 25 doi: 10.1016/j.ijom.2008.06.007. PMID: 18657395

Prognosis

Mental Development and Surgical Prognosis of Pai Syndrome: A Case Report and Review of the Literature.
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
Nasal septal lipoma in a child: Pai syndrome or not?
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
Pai syndrome: a report of a case and review of the literature.
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
A patient with Simpson-Golabi-Behmel syndrome and hepatocellular carcinoma.
Lapunzina P, Badia I, Galoppo C, De Matteo E, Silberman P, Tello A, Grichener J, Hughes-Benzie R
J Med Genet 1998 Feb;35(2):153-6. doi: 10.1136/jmg.35.2.153. PMID: 9507397Free PMC Article

Clinical prediction guides

Pai syndrome: first patient with agenesis of the corpus callosum and literature review.
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

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      Cleft lip/palate-deafness-sacral lipoma syndrome
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    • Pneumonia, Mycoplasma
      Pneumonia, Mycoplasma
      Interstitial pneumonia caused by extensive infection of the lungs (LUNG) and BRONCHI, particularly the lower lobes of the lungs, by MYCOPLASMA PNEUMONIAE in humans. In SHEEP, ...<br/>Year introduced: 1980
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