Wide mouth

Symptom Information:

Symptom ID: HPO:0000154
Synonyms:
Broad mouth [HPO:0000154]
Large mouth [HPO:0000154]
Macrostomia [HPO:0000154]
Broad mouth [OMIM:Broad mouth]
Large mouth [OMIM:Large mouth]
Macrostomia [OMIM:Macrostomia]
Wide mouth [OMIM:Wide mouth]
Macrostomia/big mouth [Orphanet:9040]
Macrostomia (large mouth) [OMIM:Macrostomia (large mouth)]
Wide mouth (deletion patients) [OMIM:Wide mouth (deletion patients)]
Wide mouth (in some patients) [OMIM:Wide mouth (in some patients)]
Macrostomia [MedDRA:10025395]
Quality:
Cross references:
Orphanet:9040 "Macrostomia/big mouth" [Orphanet:9040]
OMIM: "Broad mouth" [OMIM:Broad mouth]
OMIM: "Large mouth" [OMIM:Large mouth]
OMIM: "Macrostomia" [OMIM:Macrostomia]
OMIM: "Wide mouth" [OMIM:Wide mouth]
OMIM: "Macrostomia (large mouth)" [OMIM:Macrostomia (large mouth)]
OMIM: "Wide mouth (deletion patients)" [OMIM:Wide mouth (deletion patients)]
OMIM: "Wide mouth (in some patients)" [OMIM:Wide mouth (in some patients)]
Is a (Direct Parents):
MedDRA Musculoskeletal and connective tissue disorders of face, neck and jaw congenital
Orphanet Abnormality of the mouth
HPO         Abnormality of mouth size
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the face(HPO:0000271)
                Abnormality of the mouth(HPO:0000153)
                   Abnormality of mouth size(HPO:0011337)
                      Wide mouth(HPO:0000154)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal and connective tissue disorders of face, neck and jaw congenital(MedDRA:10028380)
          Wide mouth(HPO:0000154)
Database Frequency: 137 / 7739
Resource:

All diseases associated with this symptom:

16p13.11 microdeletion syndrome (Orphanet:261236)
16q24.3 microdeletion syndrome (Orphanet:261250)
17p11.2 microduplication syndrome (Orphanet:1713)
19q13.11 microdeletion syndrome (Orphanet:217346)
2q23.1 microdeletion syndrome (Orphanet:228402)
AICA-ribosiduria (Orphanet:250977)
ARIMA SYNDROME (OMIM:243910)
Ablepharon macrostomia syndrome (Orphanet:920)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Adenylosuccinate lyase deficiency (Orphanet:46)
Angelman syndrome (Orphanet:72)
Aspartylglucosaminuria (Orphanet:93)
Autosomal dominant nonsyndromic intellectual deficit (Orphanet:178469)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive facio-digito-genital syndrome (Orphanet:1974)
BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Baraitser-Winter syndrome (Orphanet:2995)
Barber-Say syndrome (Orphanet:1231)
Beckwith-Wiedemann syndrome (Orphanet:116)
Brachymorphism - onychodysplasia - dysphalangism (Orphanet:1292)
C syndrome (Orphanet:1308)
CARDIOFACIOCUTANEOUS SYNDROME 3 (OMIM:615279)
COFFIN-SIRIS SYNDROME (OMIM:135900)
Cabezas syndrome (Orphanet:85293)
Carpenter-Waziri syndrome (Orphanet:93973)
Caudal appendage - deafness (Orphanet:1123)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Coffin-Lowry syndrome (Orphanet:192)
Coffin-Siris syndrome (Orphanet:1465)
Costello syndrome (Orphanet:3071)
Craniofacial dysplasia-osteopenia syndrome (Orphanet:314555)
Craniolenticulosutural dysplasia (Orphanet:50814)
Craniosynostosis - anal anomalies - porokeratosis (Orphanet:85199)
Deafness - intellectual deficit, Martin-Probst type (Orphanet:85321)
Dermato-cardio-skeletal syndrome, Borrone type (Orphanet:1266)
Distal monosomy 7q36 (Orphanet:1636)
Dubowitz syndrome (Orphanet:235)
Epiphyseal dysplasia - hearing loss - dysmorphism (Orphanet:1825)
FACIOCARDIOMELIC SYNDROME (OMIM:612731)
Fetal hydantoin syndrome (Orphanet:1912)
Floating-Harbor syndrome (Orphanet:2044)
Fountain syndrome (Orphanet:3219)
Frank-Ter Haar syndrome (Orphanet:137834)
Fryns syndrome (Orphanet:2059)
Fryns-Smeets-Thiry syndrome (Orphanet:2058)
GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Galloway-Mowat syndrome (Orphanet:2065)
Geleophysic dysplasia (Orphanet:2623)
Goldenhar syndrome (Orphanet:374)
HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITALABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES (OMIM:614684)
HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVEFACIAL FEATURES (OMIM:609943)
Hall-Riggs syndrome (Orphanet:2107)
Hernandez-Aguirre Negrete syndrome (Orphanet:2139)
Hirschsprung disease - nail hypoplasia - dysmorphism (Orphanet:2153)
Holmes-Gang syndrome (Orphanet:93970)
Hurler syndrome (Orphanet:93473)
Hypertrichotic osteochondrodysplasia, Cantu type (Orphanet:1517)
Hypotonia-speech impairment-severe cognitive delay syndrome (Orphanet:371364)
Intellectual deficit - balding - patella luxation - acromicria (Orphanet:3041)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures (Orphanet:1568)
Intellectual deficit, X-linked - seizures - psoriasis (Orphanet:3052)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Intellectual deficit, X-linked, Nascimento type (Orphanet:163956)
Intellectual deficit, X-linked, Vitale type (Orphanet:85289)
Intellectual deficit, X-linked, Wilson type (Orphanet:85290)
Joubert syndrome with hepatic defect (Orphanet:1454)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Juberg-Marsidi syndrome (Orphanet:93972)
Lambert syndrome (Orphanet:1296)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Leprechaunism (Orphanet:508)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 (OMIM:614607)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
MGAT2-CDG (Orphanet:79329)
MICROTIA WITH MEATAL ATRESIA AND CONDUCTIVE DEAFNESS (OMIM:251800)
MOMO syndrome (Orphanet:2563)
Macrocephaly - spastic paraplegia - dysmorphism (Orphanet:2429)
Macrostomia - preauricular tags - external ophthalmoplegia (Orphanet:83619)
Mandibulofacial dysostosis - macroblepharon - macrostomia (Orphanet:357158)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Microcephalic primordial dwarfism, Alazami type (Orphanet:319671)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mosaic trisomy 14 (Orphanet:1703)
Mucopolysaccharidosis type 4 (Orphanet:582)
Mucopolysaccharidosis type 4A (Orphanet:309297)
Mucopolysaccharidosis type 4B (Orphanet:309310)
Nager syndrome (Orphanet:245)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Oculo-reno-cerebellar syndrome (Orphanet:2715)
Oculoauriculovertebral spectrum with radial defects (Orphanet:2549)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Pachygyria - epilepsy - intellectual deficit - dysmorphism (Orphanet:94084)
Peters-plus syndrome (Orphanet:709)
Pitt-Hopkins syndrome (Orphanet:2896)
Pitt-Hopkins-like syndrome 2 (OMIM:614325)
Rabson-Mendenhall syndrome (Orphanet:769)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
SENER SYNDROME (OMIM:606156)
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Sanfilippo syndrome type D (Orphanet:79272)
Scheie syndrome (Orphanet:93474)
Severe intellectual deficit and progressive spastic paraplegia (Orphanet:280763)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Simpson-Golabi-Behmel syndrome type 2 (Orphanet:79022)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Spondyloepiphyseal dysplasia, Cantu type (Orphanet:163654)
Syndromic diarrhea (Orphanet:84064)
TEMPLE-BARAITSER SYNDROME (OMIM:611816)
TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES (OMIM:273390)
TREACHER COLLINS SYNDROME 1 (OMIM:154500)
Townes-Brocks syndrome (Orphanet:857)
Transaldolase deficiency (Orphanet:101028)
Treacher-Collins syndrome (Orphanet:861)
Trigonocephaly - bifid nose - acral anomalies (Orphanet:3368)
Trigonocephaly - broad thumbs (Orphanet:3365)
Triploidy (Orphanet:3376)
Trisomy 17p (Orphanet:261290)
Warsaw breakage syndrome (Orphanet:280558)
Williams syndrome (Orphanet:904)
X-linked dominant chondrodysplasia, Chassaing-Lacombe type (Orphanet:163966)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
Zimmermann-Laband syndrome (Orphanet:3473)
Zunich-Kaye syndrome (Orphanet:3474)