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Tented philtrum

MedGen UID:
866768
Concept ID:
C4021119
Anatomical Abnormality
Synonym: Philtrum, Tented
 
HPO: HP:0011825

Definition

Prominence of a triangular soft tissue area of the philtrum with the apex to the columella. [from HPO]

Term Hierarchy

Conditions with this feature

Cerebellar, ocular, craniofacial, and genital syndrome
MedGen UID:
1680057
Concept ID:
C5193118
Disease or Syndrome
Cerebellar, ocular, craniofacial, and genital syndrome (COFG) is characterized by moderate to severe developmental delay and impaired intellectual development, severe cerebellar hypoplasia, a noticeably short forehead, medially sparse/flared and laterally extended eyebrows, corneal dystrophy, underdeveloped labioscrotal folds, and tufts of hair extruding from the lactiferous ducts with breast and nipple underdevelopment. Additional features such as pontine involvement, retinal degeneration, anteverted nares, and low-set ears have been variably observed (Rad et al., 2019).

Recent clinical studies

Etiology

Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ
Am J Med Genet A 2023 Jul;191(7):1900-1910. Epub 2023 May 14 doi: 10.1002/ajmg.a.63226. PMID: 37183572Free PMC Article
Choi SA, Lee HS, Park TJ, Park S, Ko YJ, Kim SY, Lim BC, Kim KJ, Chae JH
Brain Dev 2021 Oct;43(9):912-918. Epub 2021 Jun 8 doi: 10.1016/j.braindev.2021.05.009. PMID: 34116881
Agarwal R, Chandra R
J Craniofac Surg 2012 Sep;23(5):1349-54. doi: 10.1097/SCS.0b013e31826467e5. PMID: 22948620
Boycott KM, Parboosingh JS, Scott JN, McLeod DR, Greenberg CR, Fujiwara TM, Mah JK, Midgley J, Wade A, Bernier FP, Chodirker BN, Bunge M, Innes AM
Am J Med Genet A 2007 Aug 1;143A(15):1715-25. doi: 10.1002/ajmg.a.31832. PMID: 17603801

Diagnosis

Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ
Am J Med Genet A 2023 Jul;191(7):1900-1910. Epub 2023 May 14 doi: 10.1002/ajmg.a.63226. PMID: 37183572Free PMC Article
Choi Y, Choi J, Do H, Hwang S, Seo GH, Choi IH, Keum C, Choi JH, Kang M, Kim GH, Yoo HW, Lee BH
Mol Genet Genomic Med 2023 Apr;11(4):e2127. Epub 2022 Dec 23 doi: 10.1002/mgg3.2127. PMID: 36564961Free PMC Article
Choi SA, Lee HS, Park TJ, Park S, Ko YJ, Kim SY, Lim BC, Kim KJ, Chae JH
Brain Dev 2021 Oct;43(9):912-918. Epub 2021 Jun 8 doi: 10.1016/j.braindev.2021.05.009. PMID: 34116881
Gupta R, Gupta N, Nampoothiri S, Mandal K, Kishore Y, Sharma P, Kabra M, Phadke SR
Indian J Pediatr 2016 Jun;83(6):589-93. Epub 2015 Dec 17 doi: 10.1007/s12098-015-1940-y. PMID: 26676648
Carrington PR, Chen H, Altick JA
J Am Acad Dermatol 1994 Aug;31(2 Pt 2):331-6. doi: 10.1016/s0190-9622(94)70166-0. PMID: 8034799

Therapy

Braun M, Braun S, van Eijk T
J Drugs Dermatol 2010 May;9(5):559-60. PMID: 20480801

Prognosis

Tan HY, Wang B, Song YZ
BMC Pediatr 2022 Oct 22;22(1):612. doi: 10.1186/s12887-022-03672-w. PMID: 36273129Free PMC Article
Douglas G, Cho MT, Telegrafi A, Winter S, Carmichael J, Zackai EH, Deardorff MA, Harr M, Williams L, Psychogios A, Erwin AL, Grebe T, Retterer K, Juusola J
Am J Med Genet A 2018 Sep;176(9):1845-1851. Epub 2018 Jul 28 doi: 10.1002/ajmg.a.40368. PMID: 30055086
Hempel M, Cremer K, Ockeloen CW, Lichtenbelt KD, Herkert JC, Denecke J, Haack TB, Zink AM, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, Strom TM, van Gassen KL, Kleefstra T, Kubisch C, Engels H, Lessel D
Am J Hum Genet 2015 Sep 3;97(3):493-500. doi: 10.1016/j.ajhg.2015.08.003. PMID: 26340335Free PMC Article
Mencarelli MA, Kleefstra T, Katzaki E, Papa FT, Cohen M, Pfundt R, Ariani F, Meloni I, Mari F, Renieri A
Eur J Med Genet 2009 Mar-Jun;52(2-3):148-52. Epub 2009 Mar 19 doi: 10.1016/j.ejmg.2009.03.004. PMID: 19303466
Papa FT, Mencarelli MA, Caselli R, Katzaki E, Sampieri K, Meloni I, Ariani F, Longo I, Maggio A, Balestri P, Grosso S, Farnetani MA, Berardi R, Mari F, Renieri A
Am J Med Genet A 2008 Aug 1;146A(15):1994-8. doi: 10.1002/ajmg.a.32413. PMID: 18627055

Clinical prediction guides

Choi Y, Choi J, Do H, Hwang S, Seo GH, Choi IH, Keum C, Choi JH, Kang M, Kim GH, Yoo HW, Lee BH
Mol Genet Genomic Med 2023 Apr;11(4):e2127. Epub 2022 Dec 23 doi: 10.1002/mgg3.2127. PMID: 36564961Free PMC Article
Tan HY, Wang B, Song YZ
BMC Pediatr 2022 Oct 22;22(1):612. doi: 10.1186/s12887-022-03672-w. PMID: 36273129Free PMC Article
Bi W, Glass IA, Muzny DM, Gibbs RA, Eng CM, Yang Y, Sun A
Am J Med Genet A 2016 Aug;170(8):2181-5. Epub 2016 May 12 doi: 10.1002/ajmg.a.37727. PMID: 27170158
Agarwal R, Chandra R
J Craniofac Surg 2012 Sep;23(5):1349-54. doi: 10.1097/SCS.0b013e31826467e5. PMID: 22948620
Allanson JE, Greenberg F, Smith AC
J Med Genet 1999 May;36(5):394-7. PMID: 10353786Free PMC Article

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