Abnormality of the outer ear

Symptom Information:

Symptom ID: HPO:0000356
Synonyms:
Abnormal pinnae [HPO:0000356]
Abnormality of the auricle [HPO:0000356]
Ear anomalies [HPO:0000356]
External ear malformations [HPO:0000356]
Malformed pinnae [HPO:0000356]
Outer ear abnormality [HPO:0000356]
External ear anomaly [Orphanet:13020]
Abnormal pinnae [OMIM:Abnormal pinnae]
Ear anomalies [OMIM:Ear anomalies]
External ear malformations [OMIM:External ear malformations]
Malformed pinnae [OMIM:Malformed pinnae]
External ear anomalies [Orphanet:13020]
Abnormal pinna [OMIM:Abnormal pinna]
Abnormal pinnas [OMIM:Abnormal pinnas]
External ear anomaly [OMIM:External ear anomaly]
Malformed pinnae (30-60% of patients) [OMIM:Malformed pinnae (30-60% of patients)]
Pinnae abnormal [OMIM:Pinnae abnormal]
Quality:
Cross references:
HPO:0000377 "Abnormality of the pinna" [Orphanet:13020]
HPO:0008572 "External ear malformation" [Orphanet:13020]
Orphanet:13020 "External ear anomalies" [Orphanet:13020]
OMIM: "Abnormal pinnae" [OMIM:Abnormal pinnae]
OMIM: "Ear anomalies" [OMIM:Ear anomalies]
OMIM: "External ear malformations" [OMIM:External ear malformations]
OMIM: "Malformed pinnae" [OMIM:Malformed pinnae]
OMIM: "Abnormal pinna" [OMIM:Abnormal pinna]
OMIM: "Abnormal pinnas" [OMIM:Abnormal pinnas]
OMIM: "External ear anomaly" [OMIM:External ear anomaly]
OMIM: "Malformed pinnae (30-60% of patients)" [OMIM:Malformed pinnae (30-60% of patients)]
OMIM: "Pinnae abnormal" [OMIM:Pinnae abnormal]
Is a (Direct Parents):
HPO         Abnormality of the tympanic membrane
HPO         Abnormality of the ear
Orphanet Hearing abnormality
HPO         Abnormality of cartilage of external ear
HPO         Extra concha fold
HPO         Bilateral external ear deformity
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the ear(HPO:0000598)
          Abnormality of the outer ear(HPO:0000356)
MedDRA:
Database Frequency: 85 / 7739
Resource:

All diseases associated with this symptom:

14q11.2 microdeletion syndrome (Orphanet:261120)
14q22q23 microdeletion syndrome (Orphanet:264200)
15q24 microdeletion syndrome (Orphanet:94065)
17q21.31 microduplication syndrome (Orphanet:217340)
8p11.2 deletion syndrome (Orphanet:251066)
8p23.1 microdeletion syndrome (Orphanet:251071)
8q22.1 microdeletion syndrome (Orphanet:178303)
Aarskog-Scott syndrome (Orphanet:915)
Acro-renal-ocular syndrome (Orphanet:959)
Acrocraniofacial dysostosis (Orphanet:949)
Agnathia - holoprosencephaly - situs inversus (Orphanet:990)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Autosomal agammaglobulinemia (Orphanet:33110)
BOR syndrome (Orphanet:107)
BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
BRANCHIOOTIC SYNDROME 2 (OMIM:120502)
BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Barber-Say syndrome (Orphanet:1231)
Beckwith-Wiedemann syndrome due to 11p15 microdeletion (Orphanet:231127)
Beckwith-Wiedemann syndrome due to 11p15 microduplication (Orphanet:96076)
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion (Orphanet:231130)
Beckwith-Wiedemann syndrome due to CDKN1C mutation (Orphanet:231120)
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 (Orphanet:231117)
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 (Orphanet:96193)
Blepharonasofacial malformation syndrome (Orphanet:1252)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Bloom syndrome (Orphanet:125)
Brain malformation - congenital heart disease - postaxial polydactyly (Orphanet:75389)
Branchio-oculo-facial syndrome (Orphanet:1297)
Branchio-otic syndrome (Orphanet:52429)
CHARGE syndrome (Orphanet:138)
CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES (OMIM:269400)
CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (OMIM:614195)
Cardiocranial syndrome, Pfeiffer type (Orphanet:2872)
Combined oxidative phosphorylation defect type 14 (Orphanet:319519)
Congenital contractural arachnodactyly (Orphanet:115)
Craniofacial dysplasia-osteopenia syndrome (Orphanet:314555)
Delayed speech - facial asymmetry - strabismus - ear lobe creases (Orphanet:3038)
Diprosopia (Orphanet:1681)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Duane retraction syndrome (Orphanet:233)
EEC syndrome (Orphanet:1896)
Epidermolysis bullosa simplex with pyloric atresia (Orphanet:158684)
Familial lambdoid synostosis (Orphanet:3267)
Fanconi anemia (Orphanet:84)
Feingold syndrome (Orphanet:1305)
Fraser syndrome (Orphanet:2052)
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS (OMIM:610680)
Hamel cerebro-palato-cardiac syndrome (Orphanet:93946)
Hennekam syndrome (Orphanet:2136)
Holoprosencephaly (Orphanet:2162)
Hutchinson-Gilford progeria syndrome (Orphanet:740)
Intellectual deficit, X-linked, Stevenson type (Orphanet:85325)
Lacrimo-auriculo-dento-digital syndrome (Orphanet:2363)
Lethal restrictive dermopathy (Orphanet:1662)
MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY (OMIM:248400)
MELAS (Orphanet:550)
Marden-Walker syndrome (Orphanet:2461)
Microcephaly-cardiomyopathy syndrome (Orphanet:2515)
Microphthalmia, Lenz type (Orphanet:568)
Mowat-Wilson syndrome (Orphanet:2152)
Multiple benign circumferential skin creases on limbs (Orphanet:2505)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Oculodentodigital dysplasia (Orphanet:2710)
Okihiro syndrome (Orphanet:93293)
Osteopenia - myopia - hearing loss - intellectual deficit - facial dysmorphism (Orphanet:91133)
PEHO syndrome (Orphanet:2836)
Patterson-Stevenson-Fontaine syndrome (Orphanet:2439)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Ptosis - upper ocular movement limitation - absence of lacrimal punctum (Orphanet:228396)
Recombinant 8 syndrome (Orphanet:96167)
Relapsing polychondritis (Orphanet:728)
Rothmund-Thomson syndrome (Orphanet:2909)
Saethre-Chotzen syndrome (Orphanet:794)
Sanjad-Sakati syndrome (Orphanet:2323)
Simpson-Golabi-Behmel syndrome type 2 (Orphanet:79022)
Smith-Magenis syndrome (Orphanet:819)
Syndactyly - telecanthus - anogenital and renal malformations (Orphanet:140952)
TREACHER COLLINS SYNDROME 3 (OMIM:248390)
Townes-Brocks syndrome (Orphanet:857)
Trisomy 1q (Orphanet:261344)
Wildervanck syndrome (Orphanet:3456)
X-linked intellectual deficit, Golabi-Ito-Hall type (Orphanet:93947)
Zellweger syndrome (Orphanet:912)
Zunich-Kaye syndrome (Orphanet:3474)