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Ear malformation

MedGen UID:
75618
Concept ID:
C0266589
Congenital Abnormality
Synonyms: Abnormality of the ear; CUP EAR
SNOMED CT: Malformation of ear (275259005); Congenital abnormality of ear (275259005); Congenital anomaly of ear (275259005); Congenital deformity of ear (275259005); Congenital malformation of ear (275259005)
 
HPO: HP:0000598
Monarch Initiative: MONDO:0007500
OMIM®: 128600

Definition

An abnormality of the ear. [from HPO]

Clinical features

From HPO
Ear malformation
MedGen UID:
75618
Concept ID:
C0266589
Congenital Abnormality
An abnormality of the ear.

Conditions with this feature

Piebaldism
MedGen UID:
36361
Concept ID:
C0080024
Congenital Abnormality
Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by Thomas et al., 2004).
Velocardiofacial syndrome
MedGen UID:
65085
Concept ID:
C0220704
Disease or Syndrome
Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.
Cerebrooculofacioskeletal syndrome 1
MedGen UID:
66320
Concept ID:
C0220722
Disease or Syndrome
An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.
Ear malformation
MedGen UID:
75618
Concept ID:
C0266589
Congenital Abnormality
An abnormality of the ear.
Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes
MedGen UID:
87435
Concept ID:
C0342280
Disease or Syndrome
A rare genetic disease characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly.
Cone-rod dystrophy 1
MedGen UID:
371596
Concept ID:
C1833564
Disease or Syndrome
Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nThe first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).
Ossified ear cartilages
MedGen UID:
331587
Concept ID:
C1833791
Disease or Syndrome
Chromosome 8Q12.1-q21.2 deletion syndrome
MedGen UID:
333071
Concept ID:
C1838346
Disease or Syndrome
Hairy ears, Y-linked
MedGen UID:
374123
Concept ID:
C1839070
Disease or Syndrome
The hairy ears trait consists of long hairs growing from the helix of the pinna; see Dronamraju (1964) and Stern et al. (1964).
Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
MedGen UID:
340317
Concept ID:
C1849401
Disease or Syndrome
A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.
Otoonychoperoneal syndrome
MedGen UID:
376704
Concept ID:
C1850105
Disease or Syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears, nail hypoplasia, and variable skeletal malformations, such as hypoplastic or absent fibulae, abnormalities of the scapula, clavicle, and acromioclavicular joint, and talipes equinovarus, among others. Joint contractures and mild facial dysmorphism have also been reported.
Osteoma of middle ear
MedGen UID:
342425
Concept ID:
C1850142
Neoplastic Process
Exchondrosis of pinna, posterior
MedGen UID:
377032
Concept ID:
C1851463
Disease or Syndrome
Ear folding
MedGen UID:
377546
Concept ID:
C1851901
Finding
Ear antitragus, tag at base of
MedGen UID:
343680
Concept ID:
C1851905
Finding
Distal arthrogryposis type 2B1
MedGen UID:
1676961
Concept ID:
C5193014
Disease or Syndrome
Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. It is a disorder of primary limb malformation without primary neurologic or muscle disease. DA1 is not associated with other abnormalities, whereas other forms of DA have additional phenotypic features (Bamshad et al., 1996). The congenital contractures in DA2B (Sheldon-Hall syndrome, SHS) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. DA2B is thought to be the most common of the distal arthrogryposis disorders (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).
Blau syndrome
MedGen UID:
1684759
Concept ID:
C5201146
Disease or Syndrome
Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).
Patterson-Stevenson-Fontaine syndrome
MedGen UID:
1808766
Concept ID:
C5574964
Disease or Syndrome
A very rare variant of acrofacial dysostosis with characteristics of mandibulofacial dysostosis and limb anomalies. It has been described in less than ten patients. The mandibulofacial dysostosis consists of retrognathism, complete or occult posterior cleft palate and anomalies of the external ears. Limb anomalies consist of split-foot deformity with syndactyly of some toes. The condition is transmitted as an autosomal dominant trait with variable penetrance and expressivity.

Professional guidelines

PubMed

Chanclud J, Valence S, Perre SV, Guilbaud L, Moutard ML, Jouannic JM, Ducou Le Pointe H, Blondiaux E, Garel C
Pediatr Radiol 2023 Mar;53(3):461-469. Epub 2022 Oct 24 doi: 10.1007/s00247-022-05531-3. PMID: 36274068
Li S, Qin M, Mao S, Mei L, Cai X, Feng Y, He C, Song J
BMC Med Genomics 2022 Nov 3;15(1):230. doi: 10.1186/s12920-022-01379-6. PMID: 36329483Free PMC Article
Wang S, Ding W, Chen C, Xu B, Liu X, Bian P, Guo Y
Acta Otolaryngol 2019 Mar;139(3):223-232. Epub 2019 Feb 14 doi: 10.1080/00016489.2018.1554262. PMID: 30762457

Recent clinical studies

Therapy

Sun L, Wu Q, Wang H, Liu J, Shao Y, Xu R, Gong T, Peng X, Zhang B
Front Public Health 2022;10:1017644. Epub 2023 Jan 4 doi: 10.3389/fpubh.2022.1017644. PMID: 36684928Free PMC Article
Dalgic A, Atsal G, Ceylan ME, Aydın E, Adıbelli ZH, Edizer DT, Olgun L
J Int Adv Otol 2022 Nov;18(6):478-481. doi: 10.5152/iao.2022.21441. PMID: 36349668Free PMC Article
Zou K, Fan Y, Jiang L, Huang J, Miao Y, Yang C, Yang M, Zhao L
Medicine (Baltimore) 2020 Jul 24;99(30):e21313. doi: 10.1097/MD.0000000000021313. PMID: 32791720Free PMC Article
Mehanna AM, Gamaleldin OA, Fathalla MF
Int J Pediatr Otorhinolaryngol 2019 Feb;117:96-104. Epub 2018 Nov 23 doi: 10.1016/j.ijporl.2018.11.027. PMID: 30579097
Smeds H, Wales J, Asp F, Löfkvist U, Falahat B, Anderlid BM, Anmyr L, Karltorp E
Otol Neurotol 2017 Jan;38(1):38-46. doi: 10.1097/MAO.0000000000001253. PMID: 27779564

Prognosis

Castiquini EAT, Alvarenga KF, Souza LM, Oliveira VV, Chaves JN, Lourençone LFM, Brito Neto RV
Codas 2023;36(1):e20220271. Epub 2023 Oct 23 doi: 10.1590/2317-1782/20232022271pt. PMID: 37878957Free PMC Article
Robson CD, Lewis M, D'Arco F
Neuroimaging Clin N Am 2023 Nov;33(4):531-542. Epub 2023 Jul 11 doi: 10.1016/j.nic.2023.05.005. PMID: 37741656
Wang Y, Jiang M, Zhu Y, Xue L, Shu W, Li X, Chen H, Li Y, Chen Y, Chai Y, Zhang Y, Chu Y, Song Y, Tao X, Wang Z, Wu H
Elife 2023 Sep 12;12 doi: 10.7554/eLife.85983. PMID: 37697742Free PMC Article
Hugel M, Ayari-Khalfallah S, Fieux M, Coudert A, Truy E, Hermann R
Eur Arch Otorhinolaryngol 2022 Nov;279(11):5123-5133. Epub 2022 Apr 27 doi: 10.1007/s00405-022-07353-3. PMID: 35476132
Rodríguez Soriano J
J Nephrol 2003 Jul-Aug;16(4):603-5. PMID: 14696767

Clinical prediction guides

Zhang M, Lin J, Zhang J, Han Z, Liu C, Zou Y
Acta Otolaryngol 2023 Nov;143(sup1):S17-S24. Epub 2024 Feb 13 doi: 10.1080/00016489.2023.2276348. PMID: 38071650
Hugel M, Ayari-Khalfallah S, Fieux M, Coudert A, Truy E, Hermann R
Eur Arch Otorhinolaryngol 2022 Nov;279(11):5123-5133. Epub 2022 Apr 27 doi: 10.1007/s00405-022-07353-3. PMID: 35476132
Forli F, Lazzerini F, Auletta G, Bruschini L, Berrettini S
Eur Arch Otorhinolaryngol 2021 Jul;278(7):2305-2312. Epub 2020 Sep 10 doi: 10.1007/s00405-020-06333-9. PMID: 32910226Free PMC Article
Frenzel H
Adv Otorhinolaryngol 2018;81:32-42. Epub 2018 Apr 6 doi: 10.1159/000485525. PMID: 29794426
Smeds H, Wales J, Asp F, Löfkvist U, Falahat B, Anderlid BM, Anmyr L, Karltorp E
Otol Neurotol 2017 Jan;38(1):38-46. doi: 10.1097/MAO.0000000000001253. PMID: 27779564

Recent systematic reviews

Wahdini SI, Idamatussilmi F, Pramanasari R, Prawoto AN, Wungu CDK, Putri IL, Gunadi
Orphanet J Rare Dis 2024 Apr 9;19(1):152. doi: 10.1186/s13023-024-03142-9. PMID: 38594752Free PMC Article
Corazzi V, Fordington S, Brown TH, Donnelly N, Bewick J, Ehsani D, Pelucchi S, Bianchini C, Ciorba A, Borsetto D
Eur Arch Otorhinolaryngol 2024 Jul;281(7):3397-3421. Epub 2024 Feb 27 doi: 10.1007/s00405-024-08527-x. PMID: 38411671

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