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Lymphedema-posterior choanal atresia syndrome(CATLPH)

MedGen UID:
462225
Concept ID:
C3150875
Disease or Syndrome
Synonym: Choanal atresia and lymphedema
SNOMED CT: Lymphedema, posterior choanal atresia syndrome (1204421005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): PTPN14 (1q32.3-41)
 
Monarch Initiative: MONDO:0013324
OMIM®: 613611
Orphanet: ORPHA99141

Definition

A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear and high-arched palate), hypoplastic nipples and pectus excavatum. [from SNOMEDCT_US]

Clinical features

From HPO
Pericardial effusion
MedGen UID:
10653
Concept ID:
C0031039
Disease or Syndrome
Accumulation of fluid within the pericardium.
Lymphedema
MedGen UID:
6155
Concept ID:
C0024236
Disease or Syndrome
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
Choanal atresia
MedGen UID:
3395
Concept ID:
C0008297
Congenital Abnormality
Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
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).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLymphedema-posterior choanal atresia syndrome

Professional guidelines

PubMed

Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Hefner MA, Fassi E
Am J Med Genet C Semin Med Genet 2017 Dec;175(4):407-416. Epub 2017 Oct 31 doi: 10.1002/ajmg.c.31589. PMID: 29088501
Slavotinek AM, Tifft CJ
J Med Genet 2002 Sep;39(9):623-33. doi: 10.1136/jmg.39.9.623. PMID: 12205104Free PMC Article

Recent clinical studies

Etiology

Oh MS, Kadom N, Abramowicz S, Todd NW Jr
Am J Otolaryngol 2021 Jan-Feb;42(1):102824. Epub 2020 Nov 12 doi: 10.1016/j.amjoto.2020.102824. PMID: 33221635
Mahdi ES, Whitehead MT
AJNR Am J Neuroradiol 2018 Jun;39(6):1153-1156. Epub 2018 Apr 5 doi: 10.3174/ajnr.A5612. PMID: 29622552Free PMC Article
Castanet M, Polak M
Horm Res Paediatr 2010;73(6):423-9. Epub 2010 May 6 doi: 10.1159/000281438. PMID: 20453517
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article
Lowe LH, Booth TN, Joglar JM, Rollins NK
Radiographics 2000 Jul-Aug;20(4):907-22; quiz 1106-7, 1112. doi: 10.1148/radiographics.20.4.g00jl07907. PMID: 10903683

Diagnosis

Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Salsi V, Magdinier F, Tupler R
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030258. PMID: 32121044Free PMC Article
Lesciotto KM, Heuzé Y, Jabs EW, Bernstein JM, Richtsmeier JT
Plast Reconstr Surg 2018 Jan;141(1):156-168. doi: 10.1097/PRS.0000000000003928. PMID: 29280877Free PMC Article
Sanlaville D, Verloes A
Eur J Hum Genet 2007 Apr;15(4):389-99. Epub 2007 Feb 14 doi: 10.1038/sj.ejhg.5201778. PMID: 17299439
Jeftha A, Stephen L, Morkel JA, Beighton P
J Clin Pediatr Dent 2004 Winter;28(2):173-6. doi: 10.17796/jcpd.28.2.72m01l5g50448548. PMID: 14969379

Therapy

Gundle L, Ojha S, Hendry J, Rosen H
Int J Pediatr Otorhinolaryngol 2021 Dec;151:110926. Epub 2021 Oct 1 doi: 10.1016/j.ijporl.2021.110926. PMID: 34624631
Gupton SE, McCarthy EA, Markert ML
J Clin Immunol 2021 Jul;41(5):896-905. Epub 2021 May 18 doi: 10.1007/s10875-021-01044-0. PMID: 34003433Free PMC Article
Chen X, Yan K, Gao Y, Wang H, Chen G, Wu B, Qin Q, Yang L, Zhou W
BMC Med Genet 2019 May 30;20(1):93. doi: 10.1186/s12881-019-0813-z. PMID: 31146700Free PMC Article
Kita M, Kuwata Y, Usui T
Auris Nasus Larynx 2019 Oct;46(5):808-812. Epub 2018 Nov 2 doi: 10.1016/j.anl.2018.10.005. PMID: 30396722
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article

Prognosis

Ferlito S, Maniaci A, Dragonetti AG, Cocuzza S, Lechien JR, Calvo-Henríquez C, Maza-Solano J, Locatello LG, Caruso S, Nocera F, Achena A, Mevio N, Mantini G, Ormellese G, Placentino A, La Mantia I
Int J Environ Res Public Health 2022 Jul 26;19(15) doi: 10.3390/ijerph19159084. PMID: 35897454Free PMC Article
Hefner MA, Fassi E
Am J Med Genet C Semin Med Genet 2017 Dec;175(4):407-416. Epub 2017 Oct 31 doi: 10.1002/ajmg.c.31589. PMID: 29088501
Xie C, De S, Selby A
J Craniofac Surg 2016 Jan;27(1):137-41. doi: 10.1097/SCS.0000000000002333. PMID: 26674912
Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM
J Med Genet 2011 May;48(5):334-42. Epub 2011 Mar 4 doi: 10.1136/jmg.2010.087106. PMID: 21378379
Chang L, Blain D, Bertuzzi S, Brooks BP
Curr Opin Ophthalmol 2006 Oct;17(5):447-70. doi: 10.1097/01.icu.0000243020.82380.f6. PMID: 16932062

Clinical prediction guides

Oh MS, Kadom N, Abramowicz S, Todd NW Jr
Am J Otolaryngol 2021 Jan-Feb;42(1):102824. Epub 2020 Nov 12 doi: 10.1016/j.amjoto.2020.102824. PMID: 33221635
Salsi V, Magdinier F, Tupler R
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030258. PMID: 32121044Free PMC Article
Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM
J Med Genet 2011 May;48(5):334-42. Epub 2011 Mar 4 doi: 10.1136/jmg.2010.087106. PMID: 21378379
Jeftha A, Stephen L, Morkel JA, Beighton P
J Clin Pediatr Dent 2004 Winter;28(2):173-6. doi: 10.17796/jcpd.28.2.72m01l5g50448548. PMID: 14969379
de Blécourt RA, Roddi R, Berg JP, Bloem JJ
Ann Plast Surg 1996 Dec;37(6):633-7. doi: 10.1097/00000637-199612000-00011. PMID: 8988777

Recent systematic reviews

Thomas AT, Waite J, Williams CA, Kirk J, Oliver C, Richards C
J Neurodev Disord 2022 Aug 31;14(1):49. doi: 10.1186/s11689-022-09459-5. PMID: 36045324Free PMC Article
Gundle L, Ojha S, Hendry J, Rosen H
Int J Pediatr Otorhinolaryngol 2021 Dec;151:110926. Epub 2021 Oct 1 doi: 10.1016/j.ijporl.2021.110926. PMID: 34624631

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