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Treacher Collins syndrome(TCOF; TCS; MFD1; TCS1)

MedGen UID:
66078
Concept ID:
C0242387
Disease or Syndrome
Synonym: Treacher Collins-Franceschetti syndrome
SNOMED CT: Treacher Collins syndrome (82203000); Mandibulofacial dysostosis (82203000); Franceschetti Klein syndrome (82203000)
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).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: POLR1B, POLR1D, POLR1C, TCOF1
 
Monarch Initiative: MONDO:0002457
OMIM®: 154500; 606847
OMIM® Phenotypic series: PS154500
Orphanet: ORPHA861

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 MedlinePlus Genetics
Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.

People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Hearing loss occurs in about half of all affected individuals; hearing loss is caused by defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of the ear canal. People with Treacher Collins syndrome usually have normal intelligence.  https://medlineplus.gov/genetics/condition/treacher-collins-syndrome

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Abnormal heart morphology
MedGen UID:
6748
Concept ID:
C0018798
Congenital Abnormality
Any structural anomaly of the heart.
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.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Atresia of the external auditory canal
MedGen UID:
78613
Concept ID:
C0266597
Congenital Abnormality
Absence or failure to form of the external auditory canal.
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.
Hypoplasia of the pharynx
MedGen UID:
869864
Concept ID:
C4024295
Finding
Underdevelopment of the pharynx.
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.
Wide mouth
MedGen UID:
44238
Concept ID:
C0024433
Congenital Abnormality
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Lacrimal duct stenosis
MedGen UID:
116054
Concept ID:
C0238300
Finding
Narrowing of a tear duct (lacrimal duct).
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Cleft soft palate
MedGen UID:
98471
Concept ID:
C0432098
Congenital Abnormality
Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.
Lower eyelid coloboma
MedGen UID:
373417
Concept ID:
C1837826
Disease or Syndrome
A short discontinuity of the margin of the lower eyelid.
Upper eyelid coloboma
MedGen UID:
350283
Concept ID:
C1863872
Disease or Syndrome
A short discontinuity of the margin of the upper 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.
Abnormal parotid gland morphology
MedGen UID:
871384
Concept ID:
C4025880
Anatomical Abnormality
Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.
Sparse lower eyelashes
MedGen UID:
322584
Concept ID:
C1835148
Finding
Preauricular skin tag
MedGen UID:
395989
Concept ID:
C1860816
Finding
A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Bilateral microphthalmos
MedGen UID:
334420
Concept ID:
C1843496
Congenital Abnormality
A developmental anomaly characterized by abnormal smallness of both eyes.
Visual loss
MedGen UID:
784038
Concept ID:
C3665386
Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).

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
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ
Plast Reconstr Surg 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. PMID: 26710023
Hylton JB, Leon-Salazar V, Anderson GC, De Felippe NL
J Dent Child (Chic) 2012 Jan-Apr;79(1):15-21. PMID: 22449504

Recent clinical studies

Etiology

Reid L, Carroll W
Cleft Palate Craniofac J 2021 Nov;58(11):1438-1442. Epub 2021 Mar 31 doi: 10.1177/1055665621998138. PMID: 33784859
Orgebin E, Lamoureux F, Isidor B, Charrier C, Ory B, Lézot F, Baud'huin M
Cells 2020 Sep 11;9(9) doi: 10.3390/cells9092080. PMID: 32932838Free PMC Article
Kantaputra PN, Tripuwabhrut K, Intachai W, Carlson BM, Quarto N, Ngamphiw C, Tongsima S, Sonsuwan N
Clin Otolaryngol 2020 Sep;45(5):695-702. Epub 2020 May 25 doi: 10.1111/coa.13560. PMID: 32351010
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
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ
Plast Reconstr Surg 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. PMID: 26710023

Diagnosis

Ulhaq ZS, Nurputra DK, Soraya GV, Kurniawati S, Istifiani LA, Pamungkas SA, Tse WKF
Clin Genet 2023 Feb;103(2):146-155. Epub 2022 Oct 17 doi: 10.1111/cge.14243. PMID: 36203321
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Schmetz A, Amiel J, Wieczorek D
Semin Fetal Neonatal Med 2021 Dec;26(6):101290. Epub 2021 Sep 17 doi: 10.1016/j.siny.2021.101290. PMID: 34561177
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ
Plast Reconstr Surg 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. PMID: 26710023
Dixon MJ
J Med Genet 1995 Oct;32(10):806-8. doi: 10.1136/jmg.32.10.806. PMID: 8558560Free PMC Article

Therapy

Guo P, Pan B, Jiang H, Yang Q, He L, Lin L
Int J Pediatr Otorhinolaryngol 2020 Jul;134:110062. Epub 2020 Apr 21 doi: 10.1016/j.ijporl.2020.110062. PMID: 32361149
Golinko MS, LeBlanc EM, Hallett AM, Alperovich M, Flores RL
J Craniofac Surg 2016 Sep;27(6):1408-11. doi: 10.1097/SCS.0000000000002821. PMID: 27607112
Plomp RG, Mathijssen IM, Moolenburgh SE, van Montfort KA, van der Meulen JJ, Poublon RM
J Plast Reconstr Aesthet Surg 2015 Jun;68(6):771-81. Epub 2015 Mar 14 doi: 10.1016/j.bjps.2015.02.029. PMID: 25862218
Herlin C, Doucet JC, Bigorre M, Khelifa HC, Captier G
J Craniomaxillofac Surg 2013 Oct;41(7):670-5. Epub 2013 Mar 1 doi: 10.1016/j.jcms.2013.01.007. PMID: 23454266
Marres HA, Cremers CW, Marres EH, Huygen PL
Ann Otol Rhinol Laryngol 1995 Jan;104(1):31-41. doi: 10.1177/000348949510400106. PMID: 7832540

Prognosis

Liu J, Dong J, Li P, Duan W
Int J Pediatr Otorhinolaryngol 2021 Aug;147:110765. Epub 2021 May 11 doi: 10.1016/j.ijporl.2021.110765. PMID: 34058530
Reid L, Carroll W
Cleft Palate Craniofac J 2021 Nov;58(11):1438-1442. Epub 2021 Mar 31 doi: 10.1177/1055665621998138. PMID: 33784859
Kantaputra PN, Tripuwabhrut K, Intachai W, Carlson BM, Quarto N, Ngamphiw C, Tongsima S, Sonsuwan N
Clin Otolaryngol 2020 Sep;45(5):695-702. Epub 2020 May 25 doi: 10.1111/coa.13560. PMID: 32351010
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
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ
Plast Reconstr Surg 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. PMID: 26710023

Clinical prediction guides

Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN
Am J Hum Genet 2023 May 4;110(5):809-825. Epub 2023 Apr 18 doi: 10.1016/j.ajhg.2023.03.014. PMID: 37075751Free PMC Article
Ulhaq ZS, Nurputra DK, Soraya GV, Kurniawati S, Istifiani LA, Pamungkas SA, Tse WKF
Clin Genet 2023 Feb;103(2):146-155. Epub 2022 Oct 17 doi: 10.1111/cge.14243. PMID: 36203321
Liu J, Dong J, Li P, Duan W
Int J Pediatr Otorhinolaryngol 2021 Aug;147:110765. Epub 2021 May 11 doi: 10.1016/j.ijporl.2021.110765. PMID: 34058530
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
Ali-Khan S, Runyan C, Nardini G, Shetye P, Staffenberg D, McCarthy JG, Flores RL
Ann Plast Surg 2018 Sep;81(3):305-310. doi: 10.1097/SAP.0000000000001514. PMID: 29905603

Recent systematic reviews

Ulhaq ZS, Nurputra DK, Soraya GV, Kurniawati S, Istifiani LA, Pamungkas SA, Tse WKF
Clin Genet 2023 Feb;103(2):146-155. Epub 2022 Oct 17 doi: 10.1111/cge.14243. PMID: 36203321
Guo P, Pan B, Jiang H, Yang Q, He L, Lin L
Int J Pediatr Otorhinolaryngol 2020 Jul;134:110062. Epub 2020 Apr 21 doi: 10.1016/j.ijporl.2020.110062. PMID: 32361149
Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, Poublon RML, Mathijssen IMJ
Plast Reconstr Surg 2016 Jan;137(1):191-204. doi: 10.1097/PRS.0000000000001896. PMID: 26710023

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