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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
Verloes A
Am J Med Genet A 2005 Mar 15;133A(3):306-8. doi: 10.1002/ajmg.a.30559. PMID: 15666308

Recent clinical studies

Etiology

Beauchamp MC, Alam SS, Kumar S, Jerome-Majewska LA
Dev Dyn 2020 Aug;249(8):924-945. Epub 2020 May 21 doi: 10.1002/dvdy.183. PMID: 32315467
Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article
Scheid SC, Spector AR, Luft JD
Int J Pediatr Otorhinolaryngol 2002 Sep 2;65(2):147-52. doi: 10.1016/s0165-5876(02)00132-5. PMID: 12176186
Trip J, van Stuijvenberg M, Dikkers FG, Pijnenburg MW
Eur J Pediatr 2002 Feb;161(2):78-80. doi: 10.1007/s00431-001-0870-z. PMID: 11954755
Davenport SL
Pediatrician 1988;15(1-2):37-44. PMID: 2459684

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
Baxter DJ, Shroff MM
Semin Ultrasound CT MR 2011 Dec;32(6):555-68. doi: 10.1053/j.sult.2011.06.004. PMID: 22108218
Trip J, van Stuijvenberg M, Dikkers FG, Pijnenburg MW
Eur J Pediatr 2002 Feb;161(2):78-80. doi: 10.1007/s00431-001-0870-z. PMID: 11954755

Therapy

Blake KD, Prasad C
Orphanet J Rare Dis 2006 Sep 7;1:34. doi: 10.1186/1750-1172-1-34. PMID: 16959034Free PMC Article
Al ST, Cottrell DA, Hughes CV
Pediatr Dent 2002 Jan-Feb;24(1):43-6. PMID: 11874058
Wilson LC, Kerr BA, Wilkinson R, Fossard C, Donnai D
Am J Med Genet 1998 Jan 13;75(2):220-2. doi: 10.1002/(sici)1096-8628(19980113)75:2<220::aid-ajmg21>3.0.co;2-q. PMID: 9450891
Newman B, Bowen A, Oh KS
Curr Probl Diagn Radiol 1990 Mar-Apr;19(2):41-84. doi: 10.1016/0363-0188(90)90013-8. PMID: 2406110
Greenberg F
Am J Med Genet 1987 Dec;28(4):931-4. doi: 10.1002/ajmg.1320280419. PMID: 3688031

Prognosis

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
Scheid SC, Spector AR, Luft JD
Int J Pediatr Otorhinolaryngol 2002 Sep 2;65(2):147-52. doi: 10.1016/s0165-5876(02)00132-5. PMID: 12176186
Trip J, van Stuijvenberg M, Dikkers FG, Pijnenburg MW
Eur J Pediatr 2002 Feb;161(2):78-80. doi: 10.1007/s00431-001-0870-z. PMID: 11954755
Cox H, Viljoen D, Versfeld G, Beighton P
Clin Genet 1989 May;35(5):322-30. doi: 10.1111/j.1399-0004.1989.tb02952.x. PMID: 2788043
Davenport SL
Pediatrician 1988;15(1-2):37-44. PMID: 2459684

Clinical prediction guides

Salsi V, Magdinier F, Tupler R
Genes (Basel) 2020 Feb 28;11(3) doi: 10.3390/genes11030258. PMID: 32121044Free PMC Article
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
Har-El G, Borderon ML, Weiss MH
Ann Otol Rhinol Laryngol 1991 Aug;100(8):661-4. doi: 10.1177/000348949110000812. PMID: 1872518
Oley CA, Baraitser M, Grant DB
J Med Genet 1988 Mar;25(3):147-56. doi: 10.1136/jmg.25.3.147. PMID: 3351900Free PMC Article
Davenport SL
Pediatrician 1988;15(1-2):37-44. PMID: 2459684

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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