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External auditory canal atresia-vertical talus-hypertelorism syndrome

MedGen UID:
361813
Concept ID:
C1876181
Disease or Syndrome
Synonym: External auditory canal, bilateral atresia of, with congenital vertical talus
Modes of inheritance:
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.
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0007587
OMIM®: 133705
Orphanet: ORPHA3023

Definition

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad: congenital, bilateral, symmetrical, subtotal, external auditory canal atresia, bilateral vertical talus and increased interocular distance. [from ORDO]

Clinical features

From HPO
Congenital vertical talus
MedGen UID:
66821
Concept ID:
C0240912
Congenital Abnormality
Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by Dobbs et al., 2006).
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Short 5th finger
MedGen UID:
334269
Concept ID:
C1842878
Congenital Abnormality
Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.
Bilateral single transverse palmar creases
MedGen UID:
354661
Concept ID:
C1862095
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.
Congenital hypertrophic pyloric stenosis
MedGen UID:
196010
Concept ID:
C0700639
Congenital Abnormality
Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.
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.
Atresia of the external auditory canal
MedGen UID:
78613
Concept ID:
C0266597
Congenital Abnormality
Absence or failure to form of the external auditory canal.
Congenital hip dislocation
MedGen UID:
9258
Concept ID:
C0019555
Disease or Syndrome
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Exotropia
MedGen UID:
4613
Concept ID:
C0015310
Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVExternal auditory canal atresia-vertical talus-hypertelorism syndrome

Professional guidelines

PubMed

Ward BK, van de Berg R, van Rompaey V, Bisdorff A, Hullar TE, Welgampola MS, Carey JP
J Vestib Res 2021;31(3):131-141. doi: 10.3233/VES-200004. PMID: 33522990Free PMC Article
Plotkin SR, Halpin C, Blakeley JO, Slattery WH 3rd, Welling DB, Chang SM, Loeffler JS, Harris GJ, Sorensen AG, McKenna MJ, Barker FG 2nd
J Neurooncol 2009 May;93(1):61-77. Epub 2009 May 9 doi: 10.1007/s11060-009-9867-7. PMID: 19430883Free PMC Article
Minor LB
Curr Opin Otolaryngol Head Neck Surg 2003 Oct;11(5):340-6. doi: 10.1097/00020840-200310000-00006. PMID: 14502064

Recent clinical studies

Etiology

Shao Y, Sun K, Yang M, Chang J
Exp Dermatol 2024 Jan;33(1):e14912. Epub 2023 Aug 23 doi: 10.1111/exd.14912. PMID: 37612855
Suresh K, Garcia A, Bartholomew RA, Song Y, Lee DJ
Otolaryngol Head Neck Surg 2023 Oct;169(4):1005-1011. Epub 2023 May 1 doi: 10.1002/ohn.359. PMID: 37125629
Bächinger D, Breitsprecher TM, Pscheidl A, Dhanasingh A, Mlynski R, Dazert S, Langner S, Weiss NM
Eur Arch Otorhinolaryngol 2023 May;280(5):2149-2154. Epub 2022 Oct 9 doi: 10.1007/s00405-022-07676-1. PMID: 36210370Free PMC Article
Hilton MP, Pinder DK
Cochrane Database Syst Rev 2014 Dec 8;(12):CD003162. doi: 10.1002/14651858.CD003162.pub3. PMID: 25485940
Matsunaga T
Adv Otorhinolaryngol 2014;75:2-8. Epub 2013 Oct 11 doi: 10.1159/000350491. PMID: 24135340

Diagnosis

Ishiyama G
Continuum (Minneap Minn) 2021 Apr 1;27(2):468-490. doi: 10.1212/CON.0000000000000977. PMID: 34351115
Ward BK, van de Berg R, van Rompaey V, Bisdorff A, Hullar TE, Welgampola MS, Carey JP
J Vestib Res 2021;31(3):131-141. doi: 10.3233/VES-200004. PMID: 33522990Free PMC Article
Hilton MP, Pinder DK
Cochrane Database Syst Rev 2014 Dec 8;(12):CD003162. doi: 10.1002/14651858.CD003162.pub3. PMID: 25485940
Smouha E
NeuroRehabilitation 2013;32(3):455-62. doi: 10.3233/NRE-130868. PMID: 23648600
Strupp M, Brandt T
Curr Opin Neurol 2013 Feb;26(1):81-9. doi: 10.1097/WCO.0b013e32835c5fd4. PMID: 23254559

Therapy

Parra-Perez AM, Lopez-Escamez JA
J Assoc Res Otolaryngol 2023 Jun;24(3):269-279. Epub 2023 Apr 6 doi: 10.1007/s10162-023-00896-0. PMID: 37022572Free PMC Article
Verheij E, Elden L, Crowley TB, Pameijer FA, Zackai EH, McDonald-McGinn DM, Thomeer HGXM
AJNR Am J Neuroradiol 2018 May;39(5):928-934. Epub 2018 Mar 15 doi: 10.3174/ajnr.A5588. PMID: 29545254Free PMC Article
Hilton MP, Pinder DK
Cochrane Database Syst Rev 2014 Dec 8;(12):CD003162. doi: 10.1002/14651858.CD003162.pub3. PMID: 25485940
Perry A, Lambert P
Expert Rev Anti Infect Ther 2011 Dec;9(12):1149-56. doi: 10.1586/eri.11.137. PMID: 22114965
Sweeney CJ, Gilden DH
J Neurol Neurosurg Psychiatry 2001 Aug;71(2):149-54. doi: 10.1136/jnnp.71.2.149. PMID: 11459884Free PMC Article

Prognosis

da Costa Monsanto R, Knoll RM, de Oliveira Penido N, Song G, Santos F, Paparella MM, Cureoglu S
Otolaryngol Head Neck Surg 2022 Feb;166(2):363-372. Epub 2021 Apr 20 doi: 10.1177/01945998211008911. PMID: 33874787
Hasnaoui M, Masmoudi M, Belaid T, Mighri K
Ear Nose Throat J 2021 Dec;100(10_suppl):991S-994S. Epub 2020 Jun 11 doi: 10.1177/0145561320927913. PMID: 32525735
Baxter M, McCorkle C, Trevino Guajardo C, Zuniga MG, Carter AM, Della Santina CC, Minor LB, Carey JP, Ward BK
Otol Neurotol 2019 Feb;40(2):204-212. doi: 10.1097/MAO.0000000000002077. PMID: 30570606Free PMC Article
Chen JX, Kozin ED, O'Malley J, Chebib I, Hedley-Whyte ET, Faquin W, Nadol J Jr, Quesnel AM
Laryngoscope 2019 Mar;129(3):737-742. Epub 2018 Dec 11 doi: 10.1002/lary.27281. PMID: 30536838
Sweeney CJ, Gilden DH
J Neurol Neurosurg Psychiatry 2001 Aug;71(2):149-54. doi: 10.1136/jnnp.71.2.149. PMID: 11459884Free PMC Article

Clinical prediction guides

Suzuki M, Ota Y, Takanami T, Yoshino R, Masuda H
Auris Nasus Larynx 2024 Feb;51(1):113-119. Epub 2023 Aug 26 doi: 10.1016/j.anl.2023.08.004. PMID: 37640595
Ng JH, Kuthubutheen J
Otol Neurotol 2022 Oct 1;43(9):e1020-e1023. Epub 2022 Sep 1 doi: 10.1097/MAO.0000000000003676. PMID: 36047684
Jeon JW, Christensen J, Chisholm J, Zalewski C, Rasooly M, Dempsey C, Magnani A, Frischmeyer-Guerrerio P, Brewer CC, Kim HJ
Otolaryngol Head Neck Surg 2022 Feb;166(2):357-362. Epub 2021 May 11 doi: 10.1177/01945998211008899. PMID: 33971761Free PMC Article
Baxter M, McCorkle C, Trevino Guajardo C, Zuniga MG, Carter AM, Della Santina CC, Minor LB, Carey JP, Ward BK
Otol Neurotol 2019 Feb;40(2):204-212. doi: 10.1097/MAO.0000000000002077. PMID: 30570606Free PMC Article
Ram G, Chinen J
Clin Exp Immunol 2011 Apr;164(1):9-16. Epub 2011 Feb 24 doi: 10.1111/j.1365-2249.2011.04335.x. PMID: 21352207Free PMC Article

Recent systematic reviews

Rooijers W, Tio PAE, van der Schroeff MP, Padwa BL, Dunaway DJ, Forrest CR, Koudstaal MJ, Caron CJJM
Int J Oral Maxillofac Surg 2022 Oct;51(10):1296-1304. Epub 2022 Feb 3 doi: 10.1016/j.ijom.2022.01.005. PMID: 35125269
Naert L, Van de Berg R, Van de Heyning P, Bisdorff A, Sharon JD, Ward BK, Van Rompaey V
Laryngoscope 2018 Aug;128(8):1932-1938. Epub 2017 Dec 27 doi: 10.1002/lary.27062. PMID: 29280497
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919
Hilton MP, Pinder DK
Cochrane Database Syst Rev 2014 Dec 8;(12):CD003162. doi: 10.1002/14651858.CD003162.pub3. PMID: 25485940
Alicandri-Ciufelli M, Moretti V, Ruberto M, Monzani D, Chiarini L, Presutti L
Laryngoscope 2012 Jan;122(1):51-7. Epub 2011 Nov 17 doi: 10.1002/lary.22373. PMID: 22095880

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