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Hypoplastic nasal tip

MedGen UID:
336765
Concept ID:
C1844731
Finding
Synonym: Small nasal tip
 
HPO: HP:0005278

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplastic nasal tip

Conditions with this feature

Craniofrontonasal syndrome
MedGen UID:
65095
Concept ID:
C0220767
Disease or Syndrome
Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism (Twigg et al., 2004; Wieland et al., 2004).
Cardiospondylocarpofacial syndrome
MedGen UID:
444060
Concept ID:
C2931461
Disease or Syndrome
Cardiospondylocarpofacial syndrome (CSCF) is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion, extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations (summary by Le Goff et al., 2016).

Recent clinical studies

Etiology

Jackson O, Wingate N, Lee A, Kaye AE
Int J Pediatr Otorhinolaryngol 2020 Feb;129:109737. Epub 2019 Oct 24 doi: 10.1016/j.ijporl.2019.109737. PMID: 31683189
Zhou J, Huang X, Zheng D, Li H, Herrler T, Li Q
Aesthetic Plast Surg 2014 Apr;38(2):295-302. Epub 2014 Mar 14 doi: 10.1007/s00266-014-0299-1. PMID: 24627142
Gupta N, Ghosh M, Shukla R, Das GP, Kabra M
Clin Dysmorphol 2012 Jul;21(3):113-117. doi: 10.1097/MCD.0b013e32835439cd. PMID: 22581171
Mulliken JB, Burvin R, Padwa BL
Plast Reconstr Surg 2003 Mar;111(3):1000-10. doi: 10.1097/01.PRS.0000046244.08487.BF. PMID: 12621169
Gurley JM, Pilgram T, Perlyn CA, Marsh JL
Plast Reconstr Surg 2001 Dec;108(7):1895-905; discussion 1906-7. doi: 10.1097/00006534-200112000-00007. PMID: 11743373

Diagnosis

Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K
Am J Med Genet A 2019 Jul;179(7):1126-1138. Epub 2019 May 6 doi: 10.1002/ajmg.a.61174. PMID: 31058441Free PMC Article
Nagasaki K, Nishimura G, Kikuchi T, Nyuzuki H, Sasaki S, Ogawa Y, Saitoh A
Am J Med Genet A 2018 Mar;176(3):739-742. Epub 2018 Jan 31 doi: 10.1002/ajmg.a.38623. PMID: 29383834
Temtamy SA, Aglan MS, Ashour AM, Ramzy MI, Hosny LA, Mostafa MI
Clin Dysmorphol 2006 Apr;15(2):55-64. doi: 10.1097/01.mcd.0000198926.01706.33. PMID: 16531729
Minderer S, Gloning KP, Henrich W, Stöger H
Ultrasound Obstet Gynecol 2003 Jul;22(1):16-21. doi: 10.1002/uog.160. PMID: 12858296
Ishmael HA, Begleiter ML, Regier EJ, Butler MG
Am J Med Genet 2002 Jan 15;107(2):169-73. doi: 10.1002/ajmg.10120. PMID: 11807893Free PMC Article

Therapy

Tellioglu AT, Cimen K
Aesthetic Plast Surg 2007 May-Jun;31(3):306-10. doi: 10.1007/s00266-006-0246-x. PMID: 17484064
Chen PK, Yeow VK, Noordhoff MS, Chen YR
Ann Plast Surg 1999 Feb;42(2):149-53. PMID: 10029478

Prognosis

Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R
Brain 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. PMID: 36757831Free PMC Article
Zhou J, Huang X, Zheng D, Li H, Herrler T, Li Q
Aesthetic Plast Surg 2014 Apr;38(2):295-302. Epub 2014 Mar 14 doi: 10.1007/s00266-014-0299-1. PMID: 24627142
Acikel C
Aesthetic Plast Surg 2012 Aug;36(4):862-5. Epub 2012 May 31 doi: 10.1007/s00266-012-9915-0. PMID: 22648597
Gurley JM, Pilgram T, Perlyn CA, Marsh JL
Plast Reconstr Surg 2001 Dec;108(7):1895-905; discussion 1906-7. doi: 10.1097/00006534-200112000-00007. PMID: 11743373
Romo T 3rd, Shapiro AL
Arch Otolaryngol Head Neck Surg 1992 Aug;118(8):837-41. doi: 10.1001/archotol.1992.01880080059013. PMID: 1642835

Clinical prediction guides

Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R
Brain 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. PMID: 36757831Free PMC Article
Demirel O
Ann Chir Plast Esthet 2022 Mar;67(2):111-116. Epub 2022 Feb 21 doi: 10.1016/j.anplas.2022.01.003. PMID: 35210098
Eker HK
Childs Nerv Syst 2021 May;37(5):1779-1784. Epub 2020 Aug 18 doi: 10.1007/s00381-020-04843-9. PMID: 32809063
Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K
Am J Med Genet A 2019 Jul;179(7):1126-1138. Epub 2019 May 6 doi: 10.1002/ajmg.a.61174. PMID: 31058441Free PMC Article
Ferrario VF, Dellavia C, Colombo A, Sforza C
Ann Plast Surg 2004 Dec;53(6):577-83. doi: 10.1097/01.sap.0000130702.51499.6b. PMID: 15602256

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