Anotia

A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.



Input patient's signs and symptoms


Narrow down the case reports



Total: 22 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(63.5%)		 8923938
 Toriello-Carey syndrome: evidence for X-linked inheritance.
Czarnecki P, Lacombe D, Weiss L.
Am J Med Genet. 1996;65(4):291-4.
Micrognathia Telecanthus
Brain Females Growth Disorders Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Male Syndrome X Chromosome
2
(57.8%)		 19441125
 Reviewing the evidence for mycophenolate mofetil as a new teratogen: case report and review of the literature.
Anderka MT, Lin AE, Abuelo DN, Mitchell AA, Rasmussen SA.
Am J Med Genet A. 2009;149A(6):1241-8.
Micrognathia
Abnormalities, Drug-Induced Fatal Outcome Females Homo sapiens Immunosuppressive Agents Maternal-Fetal Exchange Pregnancy Teratogens Young Adult
2
(57.8%)		 19334090
 Intrauterine exposure to mycophenolate mofetil and multiple congenital anomalies in a newborn: possible teratogenic effect.
Jackson P, Paquette L, Watiker V, Randolph L, Ramanathan R, Seri I.
Am J Med Genet A. 2009;149A(6):1231-6.
Micrognathia
Abnormalities, Drug-Induced Females Homo sapiens Immunosuppressive Agents Infant, Newborn Maternal Exposure Maternal-Fetal Exchange Pregnancy Prenatal Exposure Delayed Effects
4
(49.1%)		 9789676
 A distinct Mendelian autosomal recessive syndrome involving the association of anotia, palate agenesis, bifid tongue, and polydactyly in the dog.
Villagomez DA, Alonso RA.
Can Vet J. 1998;39(10):642-3.
Bifid tongue Polydactyly
Animals Canis familiaris Chromosome Aberrations Dog Diseases Females Genes, Recessive Male Mouth Abnormalities Palate Polydactyly Tongue
5
(45.7%)		 2284882
 [Fetus in fetu: a case report of an extremely rare cause of abdominal tumors in the infant].
Bernal-Sprekelsen JC, Bernal-Cascales M.
Z Kinderchir. 1990;45(5):317-8.
Hydrocephalus Micromelia
Abdominal Neoplasms Females Fetus Homo sapiens Infant
6
(35.3%)		 30741118
 Cochlear implantation via middle fossa approach - a case report.
Mankekar G, Arriaga MA, Viator D, Volk JM.
Cochlear Implants Int. 2019;20(4):222-227.
Facial paralysis
Child, Preschool Females Homo sapiens
6
(35.3%)		 27857806
(5108140)
 Newborn with congenital facial palsy and bilateral anotia/atresia of external auditory canal: Rare occurrence.
Mahale RR, Mehta A, John AA, Buddaraju K, Shankar AK, Rangasetty S.
J Pediatr Neurosci. 2016;11(3):271-273.
Facial palsy
6
(35.3%)		 17280850
 Bilateral incyclotorsion, absent facial nerve, and anotia: fellow travelers in Mobius sequence or oculoauriculovertebral spectrum?
Pandey PK, Shroff D, Kapoor S, Kaur N, Srivastava N, Jain P, Garg D.
J AAPOS. 2007;11(3):310-2.
Facial palsy
Adult Duane Retraction Syndrome External Ear Facial Nerve Diseases Goldenhar Syndrome Homo sapiens Magnetic Resonance Imaging Male Mobius Syndrome
6
(35.3%)		 15985743
 Anotia and facial palsy: unusual features of cardiofacial syndrome.
Girisha KM, Phadke SR.
Indian J Pediatr. 2005;72(6):525-6.
Facial paralysis
Congenital Heart Defects Crying Face Homo sapiens Infant Male
6
(35.3%)		 2751249
 [Anotia, facial paralysis, heart abnormalities: specific triad or variant of Goldenhar syndrome?].
Bretton Chappuis B, Engel E.
Ann Genet. 1989;32(1):52-4.
Facial palsy
Congenital Heart Defects Females Homo sapiens Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 17

HPO ID Term # of case reports
HP:0010628 Facial palsy 4
HP:0000316 Hypertelorism 3
HP:0000528 Anophthalmia 3
HP:0000238 Hydrocephalus 2
HP:0000347 Micrognathia 2
HP:0007209 Facial paralysis 2
HP:0000518 Cataract 1
HP:0000568 Microphthalmia 1
HP:0001320 Cerebellar vermis hypoplasia 1
HP:0001321 Cerebellar hypoplasia 1
HP:0001629 Ventricular septal defect 1
HP:0002566 Intestinal malrotation 1
HP:0002650 Scoliosis 1
HP:0002983 Micromelia 1
HP:0004383 Hypoplastic left heart 1
HP:0010297 Bifid tongue 1
HP:0010442 Polydactyly 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID