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Triangular nasal tip

MedGen UID:
326960
Concept ID:
C1839765
Finding
Synonym: Triangular shaped tip of nose
 
HPO: HP:0000451

Term Hierarchy

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

Conditions with this feature

Intellectual disability-hypotonic facies syndrome, X-linked, 1
MedGen UID:
1676827
Concept ID:
C4759781
Disease or Syndrome
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay / intellectual disability (DD/ID). Craniofacial abnormalities include small head circumference, telecanthus or widely spaced eyes, short triangular nose, tented upper lip, and thick or everted lower lip with coarsening of the facial features over time. While all affected individuals have a normal 46,XY karyotype, genital anomalies comprise a range from hypospadias and undescended testicles, to severe hypospadias and ambiguous genitalia, to normal-appearing female external genitalia. Alpha-thalassemia, observed in about 75% of affected individuals, is mild and typically does not require treatment. Osteosarcoma has been reported in a few males with germline pathogenic variants.

Recent clinical studies

Etiology

Altun H, Hanci D, Kumas Ö, Jafarov S
J Craniofac Surg 2023 Sep 1;34(6):e558-e561. Epub 2023 May 29 doi: 10.1097/SCS.0000000000009383. PMID: 37246295
Jeon YJ, Seo JH, Joo YH, Cho HJ, Jeon SY, Kim SW
Int Forum Allergy Rhinol 2019 Nov;9(11):1381-1386. Epub 2019 Aug 23 doi: 10.1002/alr.22378. PMID: 31442004
Ebrahimi A, Motamedi MH, Nejadsarvari N
Oral Surg Oral Med Oral Pathol Oral Radiol 2012 Aug;114(2):e22-5. Epub 2012 Apr 25 doi: 10.1016/j.oooo.2011.09.020. PMID: 22769416
Holmström H, Gewalli F
Plast Reconstr Surg 2008 Nov;122(5):1524-1534. doi: 10.1097/PRS.0b013e3181881fde. PMID: 18971737
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

Diagnosis

Steele TN, Blaha LE, Madan OP, Walker NJ, Marks MW
Ann Plast Surg 2021 Jun 1;86(6S Suppl 5):S555-S559. doi: 10.1097/SAP.0000000000002697. PMID: 33833160
Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T
Eur J Hum Genet 2015 Sep;23(9):1176-85. Epub 2014 Nov 26 doi: 10.1038/ejhg.2014.253. PMID: 25424714Free PMC Article
Polizzi A, Incorpora G, Pavone P, Ruggieri M, Annesi G, Gambardella A, Pavone L, Quattrone A
Childs Nerv Syst 2012 Jan;28(1):141-5. Epub 2011 Oct 20 doi: 10.1007/s00381-011-1592-9. PMID: 22011963
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article
da Fonseca MA
Am J Med Genet 2000 Jul 17;93(2):158-60. doi: 10.1002/1096-8628(20000717)93:2<158::aid-ajmg14>3.0.co;2-4. PMID: 10869120

Therapy

Keskin M, Muratoğlu Şahin N, Kurnaz E, Bayramoğlu E, Savaş Erdeve Ş, Aycan Z, Çetinkaya S
J Clin Res Pediatr Endocrinol 2017 Mar 1;9(1):91-94. Epub 2016 Oct 31 doi: 10.4274/jcrpe.3238. PMID: 27796265Free PMC Article

Prognosis

Jeon YJ, Seo JH, Joo YH, Cho HJ, Jeon SY, Kim SW
Int Forum Allergy Rhinol 2019 Nov;9(11):1381-1386. Epub 2019 Aug 23 doi: 10.1002/alr.22378. PMID: 31442004
Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV
Am J Hum Genet 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001. PMID: 30526868Free PMC Article
Holmström H, Gewalli F
Plast Reconstr Surg 2008 Nov;122(5):1524-1534. doi: 10.1097/PRS.0b013e3181881fde. PMID: 18971737
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article
Nakajima T, Ogata H, Sakuma H
Br J Plast Surg 2003 Apr;56(3):205-17. doi: 10.1016/s0007-1226(03)00114-0. PMID: 12859915

Clinical prediction guides

Altun H, Hanci D, Kumas Ö, Jafarov S
J Craniofac Surg 2023 Sep 1;34(6):e558-e561. Epub 2023 May 29 doi: 10.1097/SCS.0000000000009383. PMID: 37246295
Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members, Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV
Am J Hum Genet 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001. PMID: 30526868Free PMC Article
Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T
Eur J Hum Genet 2015 Sep;23(9):1176-85. Epub 2014 Nov 26 doi: 10.1038/ejhg.2014.253. PMID: 25424714Free PMC Article
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article
Mishima K, Mori Y, Yamada T, Sugahara T
Cells Tissues Organs 2002;170(2-3):198-206. doi: 10.1159/000046192. PMID: 11731707

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