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Treacher Collins syndrome 4(TCS4)

MedGen UID:
1712280
Concept ID:
C5394546
Disease or Syndrome
Synonyms: TCS4; TREACHER COLLINS SYNDROME 4
 
Gene (location): POLR1B (2q14.1)
 
Monarch Initiative: MONDO:0030067
OMIM®: 618939

Disease characteristics

Excerpted from the GeneReview: Treacher Collins Syndrome
Treacher Collins syndrome (TCS) is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and mandible can cause significant feeding and respiratory difficulties. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically intellect is normal. [from GeneReviews]
Authors:
Sara Huston Katsanis  |  Ethylin Wang Jabs   view full author information

Additional description

From OMIM
Treacher Collins syndrome-4 (TCS4) is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia. Most patients have conductive deafness with atretic external ear canals. Choanal atresia and cleft palate have also been observed (Sanchez et al., 2020).  http://www.omim.org/entry/618939

Clinical features

From HPO
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Respiratory failure requiring assisted ventilation
MedGen UID:
870821
Concept ID:
C4025279
Finding
A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Choanal stenosis
MedGen UID:
108427
Concept ID:
C0584837
Finding
Abnormal narrowing of the choana (the posterior nasal aperture).
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Finding
An abnormal difference between the left and right sides of the face.
Lower eyelid coloboma
MedGen UID:
373417
Concept ID:
C1837826
Disease or Syndrome
A short discontinuity of the margin of the lower eyelid.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Preauricular hair displacement
MedGen UID:
869865
Concept ID:
C4024296
Finding
An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.

Professional guidelines

PubMed

Renkema RW, de Vreugt V, Heike CL, Padwa BL, Forrest CR, Dunaway DJ, Wolvius EB, Caron CJJM, Koudstaal MJ
J Craniofac Surg 2023 Sep 1;34(6):1780-1783. Epub 2023 Jun 2 doi: 10.1097/SCS.0000000000009446. PMID: 37264504Free PMC Article
Johns AL, Stock NM, Costa B, Billaud Feragen K, Crerand CE
Cleft Palate Craniofac J 2023 Sep;60(9):1090-1112. Epub 2022 Apr 5 doi: 10.1177/10556656221091699. PMID: 35382590Free PMC Article
Chan CH, Hu AC, Jain NS, Dang BN, Liu MT, Bertrand AA, Wilson LF, Lee JC
J Craniofac Surg 2021 Nov-Dec 01;32(8):2771-2773. doi: 10.1097/SCS.0000000000007938. PMID: 34727477

Recent clinical studies

Etiology

Rooijers W, Schreuder MJ, Loudon SE, Wan MJ, Dunaway DJ, Padwa BL, Forrest CR, Koudstaal MJ, Caron CJJM
J AAPOS 2022 Feb;26(1):10.e1-10.e6. Epub 2022 Jan 13 doi: 10.1016/j.jaapos.2021.10.005. PMID: 35032653
Reid L, Carroll W
Cleft Palate Craniofac J 2021 Nov;58(11):1438-1442. Epub 2021 Mar 31 doi: 10.1177/1055665621998138. PMID: 33784859
Kato RM, Moura PP, Zechi-Ceide RM, Tonello C, Peixoto AP, Garib D
Cleft Palate Craniofac J 2021 Jan;58(1):78-83. Epub 2020 Jul 2 doi: 10.1177/1055665620937499. PMID: 32613853
Hartzell LD, Chinnadurai S
Clin Perinatol 2018 Dec;45(4):679-697. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.007. PMID: 30396412
Brandstetter KA, Patel KG
Facial Plast Surg Clin North Am 2016 Nov;24(4):495-515. doi: 10.1016/j.fsc.2016.06.006. PMID: 27712817

Diagnosis

Reid L, Carroll W
Cleft Palate Craniofac J 2021 Nov;58(11):1438-1442. Epub 2021 Mar 31 doi: 10.1177/1055665621998138. PMID: 33784859
Dubucs C, Chassaing N, Sergi C, Aubert-Mucca M, Attié-Bitach T, Lacombe D, Thauvin-Robinet C, Arpin S, Perez MJ, Cabrol C, Chen CP, Aziza J, Colin E, Martinovic J, Calvas P, Plaisancié J
Clin Oral Investig 2021 Mar;25(3):1353-1362. Epub 2020 Jul 9 doi: 10.1007/s00784-020-03443-w. PMID: 32643087
Hartzell LD, Chinnadurai S
Clin Perinatol 2018 Dec;45(4):679-697. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.007. PMID: 30396412
Brandstetter KA, Patel KG
Facial Plast Surg Clin North Am 2016 Nov;24(4):495-515. doi: 10.1016/j.fsc.2016.06.006. PMID: 27712817
Lansinger Y, Rayan G
J Hand Surg Am 2015 Apr;40(4):851-4. Epub 2014 Dec 24 doi: 10.1016/j.jhsa.2014.10.064. PMID: 25543163

Therapy

Sakamoto Y, Miwa T, Yoshida K, Kishi K
J Craniofac Surg 2019 Jan;30(1):e58-e60. doi: 10.1097/SCS.0000000000004974. PMID: 30444784
Hopper RA, Kapadia H, Susarla S, Bly R, Johnson K
Plast Reconstr Surg 2018 Aug;142(2):447-457. doi: 10.1097/PRS.0000000000004606. PMID: 29870506
AlSalloum A, El Mouzan MI, AlHerbish A, AlOmer A, Qurashi M
Ann Saudi Med 2015 Mar-Apr;35(2):107-10. doi: 10.5144/0256-4947.2015.107. PMID: 26336015Free PMC Article
Jefferies JL, Kim JJ, Belmont JW, Friedman RA
Tex Heart Inst J 2009;36(4):349-51. PMID: 19693314Free PMC Article
Bresnick S, Walker J, Clarke-Sheehan N, Reinisch J
Cleft Palate Craniofac J 2003 May;40(3):280-3. doi: 10.1597/1545-1569_2003_040_0280_ifrfpi_2.0.co_2. PMID: 12733957

Prognosis

Gomes LP, Ferraz BG, Brandão MM, Alonso N, Pittoli SV, Tonello C
J Craniofac Surg 2023 Jun 1;34(4):1283-1286. Epub 2023 Jan 20 doi: 10.1097/SCS.0000000000009192. PMID: 36658685
Mohan S, Del Rosario TJ, Pruett BE, Heard JA
Am J Case Rep 2021 Sep 4;22:e931974. doi: 10.12659/AJCR.931974. PMID: 34480792Free PMC Article
Reid L, Carroll W
Cleft Palate Craniofac J 2021 Nov;58(11):1438-1442. Epub 2021 Mar 31 doi: 10.1177/1055665621998138. PMID: 33784859
Hartzell LD, Chinnadurai S
Clin Perinatol 2018 Dec;45(4):679-697. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.007. PMID: 30396412
Dai J, Si J, Wang M, Huang L, Fang B, Shi J, Wang X, Shen G
J Craniofac Surg 2016 Sep;27(6):1420-6. doi: 10.1097/SCS.0000000000002719. PMID: 27300466

Clinical prediction guides

Gomes LP, Ferraz BG, Brandão MM, Alonso N, Pittoli SV, Tonello C
J Craniofac Surg 2023 Jun 1;34(4):1283-1286. Epub 2023 Jan 20 doi: 10.1097/SCS.0000000000009192. PMID: 36658685
Junaid M, Slack-Smith L, Wong K, Baynam G, Calache H, Hewitt T, Leonard H
Cleft Palate Craniofac J 2022 Sep;59(9):1167-1175. Epub 2021 Aug 19 doi: 10.1177/10556656211036618. PMID: 34410170
Kato RM, Moura PP, Zechi-Ceide RM, Tonello C, Peixoto AP, Garib D
Cleft Palate Craniofac J 2021 Jan;58(1):78-83. Epub 2020 Jul 2 doi: 10.1177/1055665620937499. PMID: 32613853
Bragagnolo S, Colovati MES, Souza MZ, Dantas AG, F de Soares MF, Melaragno MI, Perez AB
Am J Med Genet A 2018 Mar;176(3):638-648. Epub 2018 Jan 25 doi: 10.1002/ajmg.a.38576. PMID: 29368383
Dai J, Si J, Wang M, Huang L, Fang B, Shi J, Wang X, Shen G
J Craniofac Surg 2016 Sep;27(6):1420-6. doi: 10.1097/SCS.0000000000002719. PMID: 27300466

Recent systematic reviews

Tio PAE, Rooijers W, de Gier HHW, Poldermans HG, Koudstaal MJ, Caron CJJM
Br J Oral Maxillofac Surg 2024 Jan;62(1):30-37. Epub 2023 Nov 8 doi: 10.1016/j.bjoms.2023.09.008. PMID: 38057178
Rooijers W, Caron CJJM, Loudon SE, Padwa BL, Dunaway DJ, Forrest CR, Koudstaal MJ
Int J Oral Maxillofac Surg 2020 Sep;49(9):1107-1114. Epub 2020 Mar 23 doi: 10.1016/j.ijom.2020.03.003. PMID: 32217034
Sinclair N, Gharb BB, Papay F, Rampazzo A
J Craniofac Surg 2019 May/Jun;30(3):879-887. doi: 10.1097/SCS.0000000000005320. PMID: 30817535
van de Lande LS, Pluijmers BI, Caron CJJM, Wolvius EB, Dunaway DJ, Koudstaal MJ, Padwa BL
J Craniomaxillofac Surg 2018 Sep;46(9):1427-1435. Epub 2018 May 25 doi: 10.1016/j.jcms.2018.05.043. PMID: 29907434
Pluijmers BI, Caron CJ, Dunaway DJ, Wolvius EB, Koudstaal MJ
Int J Oral Maxillofac Surg 2014 Mar;43(3):286-95. Epub 2013 Dec 12 doi: 10.1016/j.ijom.2013.11.001. PMID: 24332589

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