Macrotia

Symptom Information:

Symptom ID: HPO:0000400
Synonyms:
Large dysplastic ears [HPO:0000400]
Large ears [HPO:0000400]
Large pinnae [HPO:0000400]
Large prominent ears [HPO:0000400]
Large protruding ears [HPO:0000400]
Large, floppy ears [HPO:0000400]
Large, prominent ears [HPO:0000400]
Large, prominent pinnae [HPO:0000400]
Large, protruding ears [HPO:0000400]
Large auricle [HPO:0000400]
Large dysplastic ears [OMIM:Large dysplastic ears]
Large ears [OMIM:Large ears]
Large pinnae [OMIM:Large pinnae]
Large prominent ears [OMIM:Large prominent ears]
Large protruding ears [OMIM:Large protruding ears]
Large, floppy ears [OMIM:Large, floppy ears]
Large, prominent ears [OMIM:Large, prominent ears]
Large, prominent pinnae [OMIM:Large, prominent pinnae]
Macrotia [OMIM:Macrotia]
Large auricle [OMIM:Large auricle]
Large ears (2p21del) [OMIM:Large ears (2p21del)]
Large ears (37%) [OMIM:Large ears (37%)]
Large ears (in some patients) [OMIM:Large ears (in some patients)]
Large, prominent ears (59%) [OMIM:Large, prominent ears (59%)]
Macrotia [MedDRA:10025396]
Quality:
Cross references:
OMIM: "Large dysplastic ears" [OMIM:Large dysplastic ears]
OMIM: "Large ears" [OMIM:Large ears]
OMIM: "Large pinnae" [OMIM:Large pinnae]
OMIM: "Large prominent ears" [OMIM:Large prominent ears]
OMIM: "Large protruding ears" [OMIM:Large protruding ears]
OMIM: "Large, floppy ears" [OMIM:Large, floppy ears]
OMIM: "Large, prominent ears" [OMIM:Large, prominent ears]
OMIM: "Large, prominent pinnae" [OMIM:Large, prominent pinnae]
OMIM: "Macrotia" [OMIM:Macrotia]
OMIM: "Large auricle" [OMIM:Large auricle]
OMIM: "Large ears (2p21del)" [OMIM:Large ears (2p21del)]
OMIM: "Large ears (37%)" [OMIM:Large ears (37%)]
OMIM: "Large ears (in some patients)" [OMIM:Large ears (in some patients)]
OMIM: "Large, prominent ears (59%)" [OMIM:Large, prominent ears (59%)]
Is a (Direct Parents):
HPO         Abnormality of the pinna
MedDRA External ear disorders congenital
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)
                Macrotia(HPO:0000400)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Ear and labyrinthine disorders congenital(MedDRA:10013995)
       External ear disorders congenital(MedDRA:10015733)
          Macrotia(HPO:0000400)
Database Frequency: 108 / 7739
Resource:

All diseases associated with this symptom:

15q24 microdeletion syndrome (Orphanet:94065)
19q13.11 microdeletion syndrome (Orphanet:217346)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2p21 microdeletion syndrome (Orphanet:163693)
3q13 microdeletion syndrome (Orphanet:1621)
3q29 microdeletion syndrome (Orphanet:65286)
ALDH18A1-related De Barsy syndrome (Orphanet:35664)
ALG3-CDG (Orphanet:79321)
ASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
Abruzzo-Erickson syndrome (Orphanet:921)
Acro-cardio-facial syndrome (Orphanet:2008)
Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Allan-Herndon-Dudley syndrome (Orphanet:59)
Alpha-mannosidosis (Orphanet:61)
Anophthalmia plus syndrome (Orphanet:1104)
Atypical hypotonia - cystinuria syndrome (Orphanet:238523)
BARTTER SYNDROME, ANTENATAL, TYPE 2 (OMIM:241200)
Barth syndrome (Orphanet:111)
Bartter syndrome (Orphanet:112)
Beckwith-Wiedemann syndrome due to NSD1 mutation (Orphanet:238613)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
Camptodactyly syndrome, Guadalajara type 2 (Orphanet:1326)
Christianson syndrome (Orphanet:85278)
Cleft palate - large ears - small head (Orphanet:2013)
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome (Orphanet:306504)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
DERMATOLEUKODYSTROPHY (OMIM:221790)
DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA (OMIM:221950)
DWARFISM, FAMILIAL, WITH MUSCLE SPASMS (OMIM:600771)
De Barsy syndrome (Orphanet:2962)
Ectodermal dysplasia - cutaneous syndactyly syndrome (Orphanet:247827)
Emanuel syndrome (Orphanet:96170)
FORSYTHE-WAKELING SYNDROME (OMIM:613606)
Fragile X syndrome (Orphanet:908)
Galloway-Mowat syndrome (Orphanet:2065)
HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT (OMIM:235830)
HOLOPROSENCEPHALY 5 (OMIM:609637)
HOLOPROSENCEPHALY 7 (OMIM:610828)
HOLOPROSENCEPHALY 9 (OMIM:610829)
Harrod syndrome (Orphanet:2115)
Hypotonia - cystinuria syndrome (Orphanet:163690)
Hypotonia-speech impairment-severe cognitive delay syndrome (Orphanet:371364)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit, X-linked - psychosis - macroorchidism (Orphanet:3077)
Intellectual deficit, X-linked, Shashi type (Orphanet:85286)
KABUKI SYNDROME 1 (OMIM:147920)
KABUKI SYNDROME 2 (OMIM:300867)
KBG syndrome (Orphanet:2332)
Kabuki syndrome (Orphanet:2322)
Keutel syndrome (Orphanet:85202)
Koolen-De Vries syndrome (Orphanet:96169)
LAMBOTTE SYNDROME (OMIM:245552)
LUBS X-LINKED MENTAL RETARDATION SYNDROME (OMIM:300260)
Langer-Giedion syndrome (Orphanet:502)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Leprechaunism (Orphanet:508)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 (OMIM:615009)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
MENTAL RETARDATION, X-LINKED 101 (OMIM:300928)
MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
MENTAL RETARDATION, X-LINKED 45 (OMIM:300498)
MENTAL RETARDATION, X-LINKED 93 (OMIM:300659)
MGAT2-CDG (Orphanet:79329)
MICROHYDRANENCEPHALY (OMIM:605013)
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
Methylmalonic acidemia with homocystinuria, type cblC (Orphanet:79282)
Micro syndrome (Orphanet:2510)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome (Orphanet:329332)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Monosomy 18p (Orphanet:1598)
Monosomy 18q (Orphanet:1600)
Monosomy 22q13 (Orphanet:48652)
Nakajo-Nishimura syndrome (Orphanet:2615)
Nance-Horan syndrome (Orphanet:627)
Neonatal hemochromatosis (Orphanet:446)
Neu-Laxova syndrome (Orphanet:2671)
Nijmegen breakage syndrome (Orphanet:647)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
PMM2-CDG (Orphanet:79318)
Pontocerebellar hypoplasia type 3 (Orphanet:97249)
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome (Orphanet:276432)
Prominent glabella - microcephaly - hypogenitalism (Orphanet:2083)
Pseudoleprechaunism syndrome, Patterson type (Orphanet:2976)
Rabson-Mendenhall syndrome (Orphanet:769)
Renpenning syndrome (Orphanet:3242)
SHORT syndrome (Orphanet:3163)
Say-Barber-Miller syndrome (Orphanet:3132)
Short-rib thoracic dysplasia 13 with or without polydactyly (OMIM:616300)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 (OMIM:234050)
Tetrasomy 12p (Orphanet:884)
Townes-Brocks syndrome (Orphanet:857)
Trichorhinophalangeal syndrome type 1 and 3 (Orphanet:77258)
WARBURG MICRO SYNDROME 1 (OMIM:600118)
WARBURG MICRO SYNDROME 2 (OMIM:614225)
WARBURG MICRO SYNDROME 3 (OMIM:614222)
Weaver syndrome (Orphanet:3447)
Wilson-Turner syndrome (Orphanet:3459)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (Orphanet:324410)