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Thickened ears

MedGen UID:
Concept ID:
Anatomical Abnormality
HPO: HP:0009894


Increased thickness of the external ear. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThickened ears

Conditions with this feature

Hyperphosphatasia with intellectual disability syndrome 6
MedGen UID:
Concept ID:
Disease or Syndrome
Hyperphosphatasia with impaired intellectual development syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Intellectual disability, X-linked, syndromic 33
MedGen UID:
Concept ID:
Disease or Syndrome
X-linked syndromic intellectual developmental disorder-33 (MRXS33) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Professional guidelines


Schjerven Magno M, Olafsson J, Beining M, Moschowits E, Lagali N, Wolffsohn JS, Craig JP, Vehof J, Dartt DA, Utheim TP
Cont Lens Anterior Eye 2023 Apr;46(2):101775. Epub 2022 Oct 28 doi: 10.1016/j.clae.2022.101775. PMID: 36715292
Hua J, Friedlander P
Ear Nose Throat J 2023 Mar;102(3):NP109-NP113. Epub 2021 Feb 11 doi: 10.1177/0145561321991341. PMID: 33570428
Greco A, De Virgilio A, Gallo A, Fusconi M, Turchetta R, Tombolini M, Rizzo MI, de Vincentiis M
Autoimmun Rev 2014 Aug;13(8):814-21. Epub 2014 Apr 12 doi: 10.1016/j.autrev.2014.04.004. PMID: 24727151

Recent clinical studies


Ferrer A, Schultz-Rogers L, Kaiwar C, Kemppainen JL, Klee EW, Gavrilova RH
Cold Spring Harb Mol Case Stud 2019 Dec;5(6) Epub 2019 Dec 13 doi: 10.1101/mcs.a004390. PMID: 31427378Free PMC Article

Clinical prediction guides

Herber R, Liem A, Pitot H, Lambert PF
J Virol 1996 Mar;70(3):1873-81. doi: 10.1128/JVI.70.3.1873-1881.1996. PMID: 8627712Free PMC Article

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