Abnormality of the pinna

Symptom Information:

Symptom ID: HPO:0000377
Synonyms:
Abnormal form of ears [HPO:0000377]
Abnormality of the external ear [HPO:0000377]
Abnormally shaped ears [HPO:0000377]
Auricular malformation [HPO:0000377]
Deformed auricles [HPO:0000377]
Deformed ears [HPO:0000377]
Dysplastic ears [HPO:0000377]
Malformation of auricle [HPO:0000377]
Malformed auricles [HPO:0000377]
Malformed ears [HPO:0000377]
Malformed external ears [HPO:0000377]
Minor malformation of the auricles [HPO:0000377]
Poorly defined conchae [HPO:0000377]
Simple ears [HPO:0000377]
External ear anomaly [Orphanet:13020]
Abnormally shaped ears [OMIM:Abnormally shaped ears]
Auricular malformation [OMIM:Auricular malformation]
Deformed auricles [OMIM:Deformed auricles]
Deformed ears [OMIM:Deformed ears]
Dysplastic ears [OMIM:Dysplastic ears]
Malformation of auricle [OMIM:Malformation of auricle]
Malformed auricles [OMIM:Malformed auricles]
Malformed ears [OMIM:Malformed ears]
Malformed external ears [OMIM:Malformed external ears]
Minor malformation of the auricles [OMIM:Minor malformation of the auricles]
Poorly defined conchae [OMIM:Poorly defined conchae]
Simple ears [OMIM:Simple ears]
External ear anomalies [Orphanet:13020]
'Simple' ears [OMIM:'Simple' ears]
Dysplastic ears (in some patients) [OMIM:Dysplastic ears (in some patients)]
External ear anomaly [OMIM:External ear anomaly]
Malformed auricle (1 patient) [OMIM:Malformed auricle (1 patient)]
Quality:
Cross references:
HPO:0000356 "Abnormality of the outer ear" [Orphanet:13020]
HPO:0008572 "External ear malformation" [Orphanet:13020]
Orphanet:13020 "External ear anomalies" [Orphanet:13020]
OMIM: "Abnormally shaped ears" [OMIM:Abnormally shaped ears]
OMIM: "Auricular malformation" [OMIM:Auricular malformation]
OMIM: "Deformed auricles" [OMIM:Deformed auricles]
OMIM: "Deformed ears" [OMIM:Deformed ears]
OMIM: "Dysplastic ears" [OMIM:Dysplastic ears]
OMIM: "Malformation of auricle" [OMIM:Malformation of auricle]
OMIM: "Malformed auricles" [OMIM:Malformed auricles]
OMIM: "Malformed ears" [OMIM:Malformed ears]
OMIM: "Malformed external ears" [OMIM:Malformed external ears]
OMIM: "Minor malformation of the auricles" [OMIM:Minor malformation of the auricles]
OMIM: "Poorly defined conchae" [OMIM:Poorly defined conchae]
OMIM: "Simple ears" [OMIM:Simple ears]
OMIM: "'Simple' ears" [OMIM:'Simple' ears]
OMIM: "Dysplastic ears (in some patients)" [OMIM:Dysplastic ears (in some patients)]
OMIM: "External ear anomaly" [OMIM:External ear anomaly]
OMIM: "Malformed auricle (1 patient)" [OMIM:Malformed auricle (1 patient)]
Is a (Direct Parents):
HPO         Long ear
HPO         Auricular pit
HPO         Auricular tag
HPO         Abnormal number of tubercles
Orphanet Hearing abnormality
HPO         Abnormality of the outer ear
HPO         Question mark ear
HPO         Satyr ear
HPO         Short ear
HPO         Quelprud Nodule
HPO         Mozart ear
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)
             Abnormality of the pinna(HPO:0000377)
MedDRA:
Database Frequency: 111 / 7739
Resource:

All diseases associated with this symptom:

14q11.2 microdeletion syndrome (Orphanet:261120)
15q13.3 microdeletion syndrome (Orphanet:199318)
1p36 deletion syndrome (Orphanet:1606)
22q11.2 microduplication syndrome (Orphanet:1727)
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Aase-Smith syndrome (Orphanet:916)
Acrocallosal syndrome (Orphanet:36)
Acrocephalopolydactyly (Orphanet:221054)
Allan-Herndon-Dudley syndrome (Orphanet:59)
Antley-Bixler syndrome (Orphanet:83)
BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
BRANCHIOOTIC SYNDROME 2 (OMIM:120502)
Barber-Say syndrome (Orphanet:1231)
Blepharophimosis - epicanthus inversus - ptosis (Orphanet:126)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Bloom syndrome (Orphanet:125)
Branchio-otic syndrome (Orphanet:52429)
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III (OMIM:611929)
CARPENTER SYNDROME 1 (OMIM:201000)
CATEL-MANZKE SYNDROME (OMIM:616145)
CHROMOSOME 16q22 DELETION SYNDROME (OMIM:614541)
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME (OMIM:613603)
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED (OMIM:613544)
COCKAYNE SYNDROME A (OMIM:216400)
COCKAYNE SYNDROME B (OMIM:133540)
COCKAYNE SYNDROME, TYPE III (OMIM:216411)
CRANIAL NERVES, CONGENITAL PARESIS OF (OMIM:218100)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Carpenter syndrome (Orphanet:65759)
Catel-Manzke syndrome (Orphanet:1388)
Cockayne syndrome (Orphanet:191)
Congenital contractural arachnodactyly (Orphanet:115)
Connective tissue disorder due to lysyl hydroxylase-3 deficiency (Orphanet:300284)
Cranioectodermal dysplasia 2 (OMIM:613610)
DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR (OMIM:221300)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
Distal monosomy 1q (Orphanet:36367)
Dubowitz syndrome (Orphanet:235)
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1 (OMIM:129900)
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME3 (OMIM:604292)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 (OMIM:615859)
Endocrine-cerebro-osteodysplasia syndrome (Orphanet:199332)
FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
FIBROCHONDROGENESIS 1 (OMIM:228520)
Femoral-facial syndrome (Orphanet:1988)
Fetal Gaucher disease (Orphanet:85212)
Fibrochondrogenesis (Orphanet:2021)
Fibulo-ulnar hypoplasia - renal anomalies (Orphanet:2256)
Focal dermal hypoplasia (Orphanet:2092)
Fraser syndrome (Orphanet:2052)
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS (OMIM:610680)
HYDROLETHALUS SYNDROME 1 (OMIM:236680)
HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITALABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES (OMIM:614684)
HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVEFACIAL FEATURES (OMIM:609943)
Holoprosencephaly - radial heart renal anomalies (Orphanet:3186)
Hydrolethalus (Orphanet:2189)
Intellectual deficit, X-linked, Snyder type (Orphanet:3063)
Isotretinoin-like syndrome (Orphanet:2306)
KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Kleefstra syndrome (Orphanet:261494)
Lethal Kniest-like dysplasia (Orphanet:2347)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lethal restrictive dermopathy (Orphanet:1662)
MAXILLOFACIAL DYSOSTOSIS (OMIM:155000)
MEIER-GORLIN SYNDROME 2 (OMIM:613800)
MELAS (Orphanet:550)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Marden-Walker syndrome (Orphanet:2461)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Moebius syndrome (Orphanet:570)
Monosomy 18p (Orphanet:1598)
Monosomy 22q13 (Orphanet:48652)
Monosomy 5p (Orphanet:281)
Monosomy 9p (Orphanet:261112)
Mowat-Wilson syndrome (Orphanet:2152)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Oculodentodigital dysplasia (Orphanet:2710)
Odontotrichomelic syndrome (Orphanet:2723)
PREMATURE AGING SYNDROME, OKAMOTO TYPE (OMIM:601811)
Phocomelia, Schinzel type (Orphanet:2879)
ROBERTS SYNDROME (OMIM:268300)
Renpenning syndrome (Orphanet:3242)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SIMOSA CRANIOFACIAL SYNDROME (OMIM:182150)
Sakati-Nyhan syndrome (Orphanet:3128)
Scalp-ear-nipple syndrome (Orphanet:2036)
Seckel syndrome (Orphanet:808)
Short rib-polydactyly syndrome, Beemer-Langer type (Orphanet:93268)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Split hand-split foot malformation (Orphanet:2440)
Spondyloepimetaphyseal dysplasia, Geneviève type (Orphanet:168454)
TREACHER COLLINS SYNDROME 1 (OMIM:154500)
TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
TRISOMY 18-LIKE SYNDROME (OMIM:601161)
Temtamy syndrome (Orphanet:1777)
Toriello-Carey syndrome (Orphanet:3338)
Treacher-Collins syndrome (Orphanet:861)
Ulbright-Hodes syndrome (Orphanet:3404)
VAN BOGAERT-HOZAY SYNDROME (OMIM:277150)
Wolf-Hirschhorn syndrome (Orphanet:280)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
Yunis-Varon syndrome (Orphanet:3472)