Microtia

Symptom Information:

Symptom ID: HPO:0008551
Synonyms:
Bilateral microtia [HPO:0008551]
Hypoplasia of the external ear [HPO:0008551]
Hypoplastic ears [HPO:0008551]
Hypoplastic pinna [HPO:0008551]
Small ears [HPO:0008551]
Small pinnae [HPO:0008551]
Underdeveloped ears [HPO:0008551]
Microtia (disorder) [Orphanet:13080]
Bilateral microtia [OMIM:Bilateral microtia]
Hypoplastic ears [OMIM:Hypoplastic ears]
Microtia [OMIM:Microtia]
Small ears [OMIM:Small ears]
Small pinnae [OMIM:Small pinnae]
Microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia [Orphanet:13080]
Microtia [Orphanet:13080]
Microtia [MedDRA:10027555]
Hypoplastic pinnae [OMIM:Hypoplastic pinnae]
Hypoplastic pinnae (30-60% of patients) [OMIM:Hypoplastic pinnae (30-60% of patients)]
Microtia (30-60% of patients) [OMIM:Microtia (30-60% of patients)]
Microtia (WWS) [OMIM:Microtia (WWS)]
Microtia, bilateral [OMIM:Microtia, bilateral]
Small ears (female) [OMIM:Small ears (female)]
Quality:
Cross references:
Orphanet:13080 "Microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia" [Orphanet:13080]
OMIM: "Bilateral microtia" [OMIM:Bilateral microtia]
OMIM: "Hypoplastic ears" [OMIM:Hypoplastic ears]
OMIM: "Microtia" [OMIM:Microtia]
OMIM: "Small ears" [OMIM:Small ears]
OMIM: "Small pinnae" [OMIM:Small pinnae]
OMIM: "Hypoplastic pinnae" [OMIM:Hypoplastic pinnae]
OMIM: "Hypoplastic pinnae (30-60% of patients)" [OMIM:Hypoplastic pinnae (30-60% of patients)]
OMIM: "Microtia (30-60% of patients)" [OMIM:Microtia (30-60% of patients)]
OMIM: "Microtia (WWS)" [OMIM:Microtia (WWS)]
OMIM: "Microtia, bilateral" [OMIM:Microtia, bilateral]
OMIM: "Small ears (female)" [OMIM:Small ears (female)]
UMLS:C0152423 "Microtia" [HPO:0008551]
Is a (Direct Parents):
HPO         Abnormality of the pinna
Orphanet Atresia of the external auditory canal
Orphanet Abnormality of the outer ear
HPO         Aplasia/Hypoplasia of the external ear
MedDRA External ear disorders congenital
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the ear(HPO:0000598)
          Aplasia/Hypoplasia of the ear(HPO:0008771)
             Aplasia/Hypoplasia of the external ear(HPO:0008772)
                Microtia(HPO:0008551)
          Abnormality of the outer ear(HPO:0000356)
             Aplasia/Hypoplasia of the external ear(HPO:0008772)
                Microtia(HPO:0008551)
             Abnormality of the pinna(HPO:0000377)
                Microtia(HPO:0008551)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Ear and labyrinthine disorders congenital(MedDRA:10013995)
       External ear disorders congenital(MedDRA:10015733)
          Microtia(HPO:0008551)
Database Frequency: 98 / 7739
Resource:

All diseases associated with this symptom:

1p36 deletion syndrome (Orphanet:1606)
1q41q42 microdeletion syndrome (Orphanet:250999)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Anotia (Orphanet:93976)
Autosomal dominant nonsyndromic intellectual deficit (Orphanet:178469)
Autosomal recessive facio-digito-genital syndrome (Orphanet:1974)
BOR syndrome (Orphanet:107)
BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Bilateral microtia - deafness - cleft palate (Orphanet:140963)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Branchio-oculo-facial syndrome (Orphanet:1297)
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION (OMIM:601088)
CHARGE syndrome (Orphanet:138)
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME (OMIM:613603)
CHST3-related skeletal dysplasia (Orphanet:263463)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Carpenter-Waziri syndrome (Orphanet:93973)
Cerebro-facio-articular syndrome (Orphanet:314679)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Coxoauricular syndrome (Orphanet:1508)
Cryptomicrotia - brachydactyly - excess fingertip arch (Orphanet:1547)
DIAMOND-BLACKFAN ANEMIA 10 (OMIM:613309)
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:300946)
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:606164)
Diabetic embryopathy (Orphanet:1926)
Dorfman-Chanarin disease (Orphanet:98907)
Down syndrome (Orphanet:870)
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME3 (OMIM:604292)
EEC syndrome (Orphanet:1896)
Ear-patella-short stature syndrome (Orphanet:2554)
Epidermolysis bullosa simplex with pyloric atresia (Orphanet:158684)
FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
Faciocardiorenal syndrome (Orphanet:1973)
Fetal Gaucher disease (Orphanet:85212)
Fine-Lubinsky syndrome (Orphanet:1272)
GMS syndrome (Orphanet:2090)
Goldenhar syndrome (Orphanet:374)
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 (OMIM:616006)
HUMERORADIAL SYNOSTOSIS WITH CRANIOFACIAL ANOMALIES (OMIM:236410)
Hennekam-Beemer syndrome (Orphanet:2135)
Holmes-Gang syndrome (Orphanet:93970)
Hypertelorism-microtia-facial clefting syndrome (Orphanet:2213)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Isotretinoin-like syndrome (Orphanet:2306)
Juberg-Marsidi syndrome (Orphanet:93972)
KAGAMI-OGATA SYNDROME (OMIM:608149)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MEIER-GORLIN SYNDROME 2 (OMIM:613800)
MEIER-GORLIN SYNDROME 3 (OMIM:613803)
MEIER-GORLIN SYNDROME 4 (OMIM:613804)
MEIER-GORLIN SYNDROME 5 (OMIM:613805)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS (OMIM:251800)
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA (OMIM:608624)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
Mandibulofacial dysostosis - macroblepharon - macrostomia (Orphanet:357158)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Methylmalonic acidemia with homocystinuria (Orphanet:26)
Methylmalonic acidemia with homocystinuria, type cblF (Orphanet:79284)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephalic primordial dwarfism, Dauber type (Orphanet:319675)
Microtia - eye coloboma - imperforation of the nasolacrimal duct (Orphanet:139450)
Muscle-eye-brain disease (Orphanet:588)
Myhre syndrome (Orphanet:2588)
Neuroectodermal syndrome, Johnson type (Orphanet:2316)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Oculoauriculovertebral spectrum with radial defects (Orphanet:2549)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Pachygyria - epilepsy - intellectual deficit - dysmorphism (Orphanet:94084)
Pallister-Hall syndrome (Orphanet:672)
Phocomelia - ectrodactyly - deafness - sinus arrhythmia (Orphanet:2878)
Primordial short stature - microdontia - opalescent and rootless teeth (Orphanet:46658)
Progressive hemifacial atrophy (Orphanet:1214)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
SENER SYNDROME (OMIM:606156)
SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS (OMIM:609654)
SHORT STATURE-OBESITY SYNDROME (OMIM:269870)
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
Saethre-Chotzen syndrome (Orphanet:794)
Scalp-ear-nipple syndrome (Orphanet:2036)
Schilbach-Rott syndrome (Orphanet:2353)
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (Orphanet:314394)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Spondyloepiphyseal dysplasia, Cantu type (Orphanet:163654)
Syndromic diarrhea (Orphanet:84064)
TARP syndrome (Orphanet:2886)
TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Townes-Brocks syndrome (Orphanet:857)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Wilson-Turner syndrome (Orphanet:3459)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)