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Abnormal helix morphology

MedGen UID:
344782
Concept ID:
C1856660
Anatomical Abnormality; Finding
Synonym: Abnormality of the helix
 
HPO: HP:0011039

Definition

An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. [from HPO]

Conditions with this feature

Fryns syndrome
MedGen UID:
65088
Concept ID:
C0220730
Disease or Syndrome
Fryns syndrome is characterized by diaphragmatic defects (diaphragmatic hernia, eventration, hypoplasia, or agenesis); characteristic facial appearance (coarse facies, wide-set eyes, a wide and depressed nasal bridge with a broad nasal tip, long philtrum, low-set and anomalous ears, tented vermilion of the upper lip, wide mouth, and a small jaw); short distal phalanges of the fingers and toes (the nails may also be small); pulmonary hypoplasia; and associated anomalies (polyhydramnios, cloudy corneas and/or microphthalmia, orofacial clefting, renal dysplasia / renal cortical cysts, and/or malformations involving the brain, cardiovascular system, gastrointestinal system, and/or genitalia). Survival beyond the neonatal period is rare. Data on postnatal growth and psychomotor development are limited; however, severe developmental delay and intellectual disability are common.
Ear without helix
MedGen UID:
343678
Concept ID:
C1851899
Finding
Peroxisome biogenesis disorder 2A (Zellweger)
MedGen UID:
763187
Concept ID:
C3550273
Disease or Syndrome
The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see 214100.
Peroxisome biogenesis disorder 5A (Zellweger)
MedGen UID:
766854
Concept ID:
C3553940
Disease or Syndrome
The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see 214100.
Peroxisome biogenesis disorder 1A (Zellweger)
MedGen UID:
1648474
Concept ID:
C4721541
Disease or Syndrome
Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild. While individual phenotypes (e.g., Zellweger syndrome [ZS], neonatal adrenoleukodystrophy [NALD], and infantile Refsum disease [IRD]) were described in the past before the biochemical and molecular bases of this spectrum were fully determined, the term "ZSD" is now used to refer to all individuals with a defect in one of the ZSD-PEX genes regardless of phenotype. Individuals with ZSD usually come to clinical attention in the newborn period or later in childhood. Affected newborns are hypotonic and feed poorly. They have distinctive facies, congenital malformations (neuronal migration defects associated with neonatal-onset seizures, renal cysts, and bony stippling [chondrodysplasia punctata] of the patella[e] and the long bones), and liver disease that can be severe. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Individuals with intermediate/milder ZSD do not have congenital malformations, but rather progressive peroxisome dysfunction variably manifest as sensory loss (secondary to retinal dystrophy and sensorineural hearing loss), neurologic involvement (ataxia, polyneuropathy, and leukodystrophy), liver dysfunction, adrenal insufficiency, and renal oxalate stones. While hypotonia and developmental delays are typical, intellect can be normal. Some have osteopenia; almost all have ameleogenesis imperfecta in the secondary teeth.

Professional guidelines

PubMed

Mariath LM, Santin JT, Frantz JA, Doriqui MJR, Schuler-Faccini L, Kiszewski AE
Clin Genet 2021 Jan;99(1):29-41. Epub 2020 Jun 29 doi: 10.1111/cge.13792. PMID: 32506467
Park C, Park JY
Plast Reconstr Surg 2016 May;137(5):1523-1538. doi: 10.1097/PRS.0000000000002120. PMID: 26796371
Biesecker L
Eur J Hum Genet 2006 Nov;14(11):1151-7. Epub 2006 Aug 2 doi: 10.1038/sj.ejhg.5201638. PMID: 16883308

Recent clinical studies

Etiology

Choi TM, Lijten OW, Mathijssen IMJ, Wolvius EB, Ongkosuwito EM
Clin Oral Investig 2022 Mar;26(3):2927-2936. Epub 2021 Dec 14 doi: 10.1007/s00784-021-04275-y. PMID: 34904178Free PMC Article
Yamamura T, Horinouchi T, Adachi T, Terakawa M, Takaoka Y, Omachi K, Takasato M, Takaishi K, Shoji T, Onishi Y, Kanazawa Y, Koizumi M, Tomono Y, Sugano A, Shono A, Minamikawa S, Nagano C, Sakakibara N, Ishiko S, Aoto Y, Kamura M, Harita Y, Miura K, Kanda S, Morisada N, Rossanti R, Ye MJ, Nozu Y, Matsuo M, Kai H, Iijima K, Nozu K
Nat Commun 2020 Jun 2;11(1):2777. doi: 10.1038/s41467-020-16605-x. PMID: 32488001Free PMC Article
Forlino A, Marini JC
Lancet 2016 Apr 16;387(10028):1657-71. Epub 2015 Nov 3 doi: 10.1016/S0140-6736(15)00728-X. PMID: 26542481Free PMC Article
Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X
Eur J Hum Genet 2015 Dec;23(12):1657-64. Epub 2015 Mar 11 doi: 10.1038/ejhg.2015.32. PMID: 25758994Free PMC Article
Scheinfeld NS, Silverberg NB, Weinberg JM, Nozad V
Pediatr Dermatol 2004 May-Jun;21(3):191-6. doi: 10.1111/j.0736-8046.2004.21301.x. PMID: 15165194

Diagnosis

Qu Y, Wu X, Anwaier A, Feng J, Xu W, Pei X, Zhu Y, Liu Y, Bai L, Yang G, Tian X, Su J, Shi GH, Cao DL, Xu F, Wang Y, Gan HL, Ni S, Sun MH, Zhao JY, Zhang H, Ye D, Ding C
Nat Commun 2022 Dec 5;13(1):7494. doi: 10.1038/s41467-022-34460-w. PMID: 36470859Free PMC Article
Salles DC, Asrani K, Woo J, Vidotto T, Liu HB, Vidal I, Matoso A, Netto GJ, Argani P, Lotan TL
J Pathol 2022 Jun;257(2):158-171. Epub 2022 Mar 29 doi: 10.1002/path.5875. PMID: 35072947Free PMC Article
Cohen-Sharir Y, McFarland JM, Abdusamad M, Marquis C, Bernhard SV, Kazachkova M, Tang H, Ippolito MR, Laue K, Zerbib J, Malaby HLH, Jones A, Stautmeister LM, Bockaj I, Wardenaar R, Lyons N, Nagaraja A, Bass AJ, Spierings DCJ, Foijer F, Beroukhim R, Santaguida S, Golub TR, Stumpff J, Storchová Z, Ben-David U
Nature 2021 Feb;590(7846):486-491. Epub 2021 Jan 27 doi: 10.1038/s41586-020-03114-6. PMID: 33505028Free PMC Article
Forlino A, Marini JC
Lancet 2016 Apr 16;387(10028):1657-71. Epub 2015 Nov 3 doi: 10.1016/S0140-6736(15)00728-X. PMID: 26542481Free PMC Article
Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X
Eur J Hum Genet 2015 Dec;23(12):1657-64. Epub 2015 Mar 11 doi: 10.1038/ejhg.2015.32. PMID: 25758994Free PMC Article

Therapy

Deeks ED
Drugs 2021 Nov;81(16):1921-1927. doi: 10.1007/s40265-021-01606-x. PMID: 34613603
Forlino A, Marini JC
Lancet 2016 Apr 16;387(10028):1657-71. Epub 2015 Nov 3 doi: 10.1016/S0140-6736(15)00728-X. PMID: 26542481Free PMC Article
Turgay E, Canat D, Gurel MS, Yuksel T, Baran MF, Demirkesen C
Clin Exp Dermatol 2009 Dec;34(8):e865-8. doi: 10.1111/j.1365-2230.2009.03618.x. PMID: 20055850
Senderowicz AM
Oncogene 2003 Sep 29;22(42):6609-20. doi: 10.1038/sj.onc.1206954. PMID: 14528286
Adamson PA, Strecker HD
Facial Plast Surg 1995 Oct;11(4):284-300. doi: 10.1055/s-2008-1064545. PMID: 9046617

Prognosis

Qu Y, Wu X, Anwaier A, Feng J, Xu W, Pei X, Zhu Y, Liu Y, Bai L, Yang G, Tian X, Su J, Shi GH, Cao DL, Xu F, Wang Y, Gan HL, Ni S, Sun MH, Zhao JY, Zhang H, Ye D, Ding C
Nat Commun 2022 Dec 5;13(1):7494. doi: 10.1038/s41467-022-34460-w. PMID: 36470859Free PMC Article
Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X
Eur J Hum Genet 2015 Dec;23(12):1657-64. Epub 2015 Mar 11 doi: 10.1038/ejhg.2015.32. PMID: 25758994Free PMC Article
Rundqvist H, Johnson RS
J Intern Med 2013 Aug;274(2):105-12. doi: 10.1111/joim.12091. PMID: 23844914
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article
Adamson PA, Strecker HD
Facial Plast Surg 1995 Oct;11(4):284-300. doi: 10.1055/s-2008-1064545. PMID: 9046617

Clinical prediction guides

Salles DC, Asrani K, Woo J, Vidotto T, Liu HB, Vidal I, Matoso A, Netto GJ, Argani P, Lotan TL
J Pathol 2022 Jun;257(2):158-171. Epub 2022 Mar 29 doi: 10.1002/path.5875. PMID: 35072947Free PMC Article
Riedhammer KM, Stockler S, Ploski R, Wenzel M, Adis-Dutschmann B, Ahting U, Alhaddad B, Blaschek A, Haack TB, Kopajtich R, Lee J, Murcia Pienkowski V, Pollak A, Szymanska K, Tarailo-Graovac M, van der Lee R, van Karnebeek CD, Meitinger T, Krägeloh-Mann I, Vill K
Brain 2021 Mar 3;144(2):411-419. doi: 10.1093/brain/awaa410. PMID: 33313762Free PMC Article
Matsuda M, Yamanaka Y, Uemura M, Osawa M, Saito MK, Nagahashi A, Nishio M, Guo L, Ikegawa S, Sakurai S, Kihara S, Maurissen TL, Nakamura M, Matsumoto T, Yoshitomi H, Ikeya M, Kawakami N, Yamamoto T, Woltjen K, Ebisuya M, Toguchida J, Alev C
Nature 2020 Apr;580(7801):124-129. Epub 2020 Apr 1 doi: 10.1038/s41586-020-2144-9. PMID: 32238941
Rosenbaum E, Jadeja B, Xu B, Zhang L, Agaram NP, Travis W, Singer S, Tap WD, Antonescu CR
Mod Pathol 2020 Apr;33(4):591-602. Epub 2019 Sep 19 doi: 10.1038/s41379-019-0368-8. PMID: 31537895Free PMC Article
Mazzola RF, Mazzola IC
J Craniofac Surg 2014 Jan;25(1):26-34. doi: 10.1097/SCS.0b013e3182a2ea94. PMID: 24406554

Recent systematic reviews

Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
Patini R, Gallenzi P, Lione R, Cozza P, Cordaro M
Medicina (Kaunas) 2019 Jun 7;55(6) doi: 10.3390/medicina55060256. PMID: 31181706Free PMC Article
Woon C, Bielinski-Bradbury A, O'Reilly K, Robinson P
BMC Nephrol 2015 Aug 15;16:140. doi: 10.1186/s12882-015-0114-5. PMID: 26275819Free PMC Article

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