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Thin ear helix

MedGen UID:
869736
Concept ID:
C4024164
Anatomical Abnormality
HPO: HP:0009905

Definition

Decreased thickness of the helix of the ear. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThin ear helix

Conditions with this feature

Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly
MedGen UID:
1850178
Concept ID:
C5882733
Disease or Syndrome
Autosomal recessive intellectual developmental disorder-80 with variant lissencephaly (MRT80) is characterized by global developmental delay with mildly to moderately impaired intellectual development and behavioral abnormalities. Speech delay and motor abnormalities, such as hypotonia, may also be present. Brain imaging shows lissencephaly with pachygyria and mild cortical thickening in the frontotemporal lobes (Uctepe et al., 2024).

Recent clinical studies

Therapy

Fauzi MB, Lokanathan Y, Aminuddin BS, Ruszymah BHI, Chowdhury SR
Mater Sci Eng C Mater Biol Appl 2016 Nov 1;68:163-171. Epub 2016 May 24 doi: 10.1016/j.msec.2016.05.109. PMID: 27524008
Cho BC, Park JW, Baik BS
Ann Plast Surg 2002 Feb;48(2):131-7. doi: 10.1097/00000637-200202000-00003. PMID: 11910217

Prognosis

di Summa PG, Sapino G, Zaugg P, Raffoul W, Guillier D
Microsurgery 2020 Oct;40(7):814-817. Epub 2020 Sep 22 doi: 10.1002/micr.30657. PMID: 32959940

Clinical prediction guides

Caselli R, Mencarelli MA, Papa FT, Uliana V, Schiavone S, Strambi M, Pescucci C, Ariani F, Rossi V, Longo I, Meloni I, Renieri A, Mari F
Eur J Med Genet 2007 Jul-Aug;50(4):315-21. Epub 2007 Apr 14 doi: 10.1016/j.ejmg.2007.03.003. PMID: 17512813
Wright CG, Roland PS, Kuzma J
Laryngoscope 2005 Nov;115(11):2041-5. doi: 10.1097/01.MLG.0000181461.63392.49. PMID: 16319621

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