Coarse facial features

Symptom Information:

Symptom ID: HPO:0000280
Synonyms:
Coarse face [HPO:0000280]
Coarse facies [HPO:0000280]
Coarse face [Orphanet:3140]
Coarse features (finding) [Orphanet:3140]
Coarse features [Orphanet:3140]
Coarse face [OMIM:Coarse face]
Coarse facial features [OMIM:Coarse facial features]
Coarse facies [OMIM:Coarse facies]
Coarse facies (type II, all types) [OMIM:Coarse facies (type II, all types)]
Quality:
Cross references:
Orphanet:3140 "Coarse face" [Orphanet:3140]
OMIM: "Coarse face" [OMIM:Coarse face]
OMIM: "Coarse facial features" [OMIM:Coarse facial features]
OMIM: "Coarse facies" [OMIM:Coarse facies]
OMIM: "Coarse facies (type II, all types)" [OMIM:Coarse facies (type II, all types)]
UMLS:C0424492 "Coarse features" [Orphanet:3140]
Is a (Direct Parents):
Orphanet Abnormal facial shape
HPO         Abnormal facial shape
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)
                Abnormal facial shape(HPO:0001999)
                   Coarse facial features(HPO:0000280)
MedDRA:
Database Frequency: 189 / 7739
Resource:

All diseases associated with this symptom:

17q11 microdeletion syndrome (Orphanet:97685)
17q11.2 microduplication syndrome (Orphanet:139474)
1q41q42 microdeletion syndrome (Orphanet:250999)
2q23.1 microdeletion syndrome (Orphanet:228402)
2q31.1 microdeletion syndrome (Orphanet:251014)
Acromegaloid facial appearance syndrome (Orphanet:965)
Acromegaly (Orphanet:963)
Acroosteolysis, dominant type (Orphanet:955)
Alagille syndrome (Orphanet:52)
Albright hereditary osteodystrophy (Orphanet:665)
Alpha-N-acetylgalactosaminidase deficiency (Orphanet:3137)
Alpha-N-acetylgalactosaminidase deficiency type 2 (Orphanet:79280)
Alpha-mannosidosis (Orphanet:61)
Aspartylglucosaminuria (Orphanet:93)
Athyreosis (Orphanet:95713)
Atkin-Flaitz syndrome (Orphanet:1193)
Autosomal dominant hyper-IgE syndrome (Orphanet:2314)
Autosomal recessive deafness-onychodystrophy syndrome (Orphanet:79500)
Baraitser-Winter syndrome (Orphanet:2995)
Beckwith-Wiedemann syndrome (Orphanet:116)
Beckwith-Wiedemann syndrome due to CDKN1C mutation (Orphanet:231120)
Blepharophimosis-intellectual deficit syndrome, MKB type (Orphanet:293707)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
Brachymorphism - onychodysplasia - dysphalangism (Orphanet:1292)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CARDIOFACIOCUTANEOUS SYNDROME 2 (OMIM:615278)
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2 (OMIM:610185)
CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
CLARK-BARAITSER SYNDROME (OMIM:300602)
COFFIN-SIRIS SYNDROME (OMIM:135900)
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Cabezas syndrome (Orphanet:85293)
Campomelia, Cumming type (Orphanet:1318)
Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia (Orphanet:1321)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carney complex (Orphanet:1359)
Carpenter-Waziri syndrome (Orphanet:93973)
Central congenital hypothyroidism (Orphanet:226298)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Coffin-Lowry syndrome (Orphanet:192)
Coffin-Siris syndrome (Orphanet:1465)
Congenital amegakaryocytic thrombocytopenia (Orphanet:3319)
Congenital hypothyroidism (Orphanet:442)
Congenital hypothyroidism due to developmental anomaly (Orphanet:95711)
Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies (Orphanet:95715)
Costello syndrome (Orphanet:3071)
Cranio-osteoarthropathy (Orphanet:1525)
Craniodiaphyseal dysplasia (Orphanet:1513)
Craniofaciofrontodigital syndrome (Orphanet:363705)
Cyprus facial-neuromusculoskeletal syndrome (Orphanet:2674)
DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED (OMIM:304950)
Deafness - onychodystrophy (Orphanet:3231)
Dermato-cardio-skeletal syndrome, Borrone type (Orphanet:1266)
Disorder of sex development - intellectual deficit (Orphanet:2983)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Dyggve-Melchior-Clausen disease (Orphanet:239)
Epilepsy - microcephaly - skeletal dysplasia (Orphanet:1948)
Fabry disease (Orphanet:324)
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation (Orphanet:1970)
Familial isolated pituitary adenoma (Orphanet:314777)
Familial thyroid dyshormonogenesis (Orphanet:95716)
Fountain syndrome (Orphanet:3219)
Fragile X syndrome (Orphanet:908)
Frank-Ter Haar syndrome (Orphanet:137834)
Free sialic acid storage disease, infantile form (Orphanet:309324)
Frontometaphyseal dysplasia (Orphanet:1826)
Fryns syndrome (Orphanet:2059)
Fucosidosis (Orphanet:349)
GM1 gangliosidosis (Orphanet:354)
GM1 gangliosidosis type 1 (Orphanet:79255)
Galactosialidosis (Orphanet:351)
Genitopatellar syndrome (Orphanet:85201)
Gigantism (Orphanet:99725)
Gingival fibromatosis-hypertrichosis syndrome (Orphanet:2026)
Gorlin syndrome (Orphanet:377)
HAJDU-CHENEY SYNDROME (OMIM:102500)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Hermansky-Pudlak syndrome with neutropenia (Orphanet:183678)
Holmes-Gang syndrome (Orphanet:93970)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hydrocephalus with stenosis of aqueduct of Sylvius (Orphanet:2182)
Hypertrichosis (Orphanet:79365)
Hypertrichotic osteochondrodysplasia, Cantu type (Orphanet:1517)
Hypothyroidism due to deficient transcription factors involved in pituitary development or function (Orphanet:226307)
Idiopathic congenital hypothyroidism (Orphanet:95717)
Insulin-resistance syndrome type A (Orphanet:2297)
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures (Orphanet:1568)
Intellectual deficit, X-linked - plagiocephaly (Orphanet:2898)
Intellectual deficit, X-linked, Shashi type (Orphanet:85286)
Intellectual deficit, X-linked, Vitale type (Orphanet:85289)
Isolated thyroid-stimulating hormone deficiency (Orphanet:90674)
Ito hypomelanosis (Orphanet:435)
Juberg-Marsidi syndrome (Orphanet:93972)
Juvenile hyaline fibromatosis (Orphanet:2028)
Kenny-Caffey syndrome (Orphanet:2333)
Kleefstra syndrome (Orphanet:261494)
Koolen-De Vries syndrome (Orphanet:96169)
Leprechaunism (Orphanet:508)
Lethal polymalformative syndrome, Boissel type (Orphanet:210144)
MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
MACS syndrome (Orphanet:217335)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 (OMIM:614607)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
MUCOLIPIDOSIS III GAMMA (OMIM:252605)
MUCOPOLYSACCHARIDOSES, UNCLASSIFIED TYPES (OMIM:252700)
Macrocephaly - spastic paraplegia - dysmorphism (Orphanet:2429)
Marfanoid habitus - intellectual deficit, autosomal recessive (Orphanet:2463)
Micrencephaly - corpus callosum agenesis - abnormal genitalia (Orphanet:2508)
Microlissencephaly - micromelia (Orphanet:50810)
Mucolipidosis type 2 (Orphanet:576)
Mucolipidosis type 3 (Orphanet:577)
Mucolipidosis type 4 (Orphanet:578)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 2, attenuated form (Orphanet:217093)
Mucopolysaccharidosis type 2, severe form (Orphanet:217085)
Mucopolysaccharidosis type 3 (Orphanet:581)
Mucopolysaccharidosis type 4 (Orphanet:582)
Mucopolysaccharidosis type 4A (Orphanet:309297)
Mucopolysaccharidosis type 4B (Orphanet:309310)
Mucopolysaccharidosis type 6 (Orphanet:583)
Mucopolysaccharidosis type 7 (Orphanet:584)
Multiple congenital anomalies - hypotonia - seizures syndrome (Orphanet:280633)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
Multiple sulfatase deficiency (Orphanet:585)
Muscular pseudohypertrophy - hypothyroidism (Orphanet:2349)
Necrotizing encephalomyelopathy, subacute, of Leigh, adult (OMIM:161700)
Noonan syndrome (Orphanet:648)
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Pachydermoperiostosis (Orphanet:2796)
Pelizaeus-Merzbacher-like disease (Orphanet:280270)
Pelizaeus-Merzbacher-like due to AIMP1 mutation (Orphanet:280293)
Peripheral hypothyroidism (Orphanet:226310)
Peripheral resistance to thyroid hormones (Orphanet:97927)
Permanent congenital hypothyroidism (Orphanet:226292)
Pitt-Hopkins syndrome (Orphanet:2896)
Platyspondylic dysplasia, Torrance type (Orphanet:85166)
Primary congenital hypothyroidism (Orphanet:226295)
Primary congenital hypothyroidism without thyroid developmental anomaly (Orphanet:95714)
Primary immunodeficiency syndrome due to p14 deficiency (Orphanet:90023)
Rabson-Mendenhall syndrome (Orphanet:769)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Resistance to thyrotropin-releasing hormone syndrome (Orphanet:99832)
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism (Orphanet:3085)
Rudiger syndrome (Orphanet:3118)
SCHAAF-YANG SYNDROME (OMIM:615547)
SLC35A2-CDG (Orphanet:356961)
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
Sandhoff disease (Orphanet:796)
Sandhoff disease, adult form (Orphanet:309169)
Sandhoff disease, infantile form (Orphanet:309155)
Sandhoff disease, juvenile form (Orphanet:309162)
Sanfilippo syndrome type B (Orphanet:79270)
Sanfilippo syndrome type C (Orphanet:79271)
Sanfilippo syndrome type D (Orphanet:79272)
Scheie syndrome (Orphanet:93474)
Schinzel-Giedion syndrome (Orphanet:798)
Severe intellectual deficit and progressive spastic paraplegia (Orphanet:280763)
Short-rib thoracic dysplasia 13 with or without polydactyly (OMIM:616300)
Sialidosis type 1 (Orphanet:812)
Sialidosis type 2 (Orphanet:87876)
Sialuria (Orphanet:3166)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Simpson-Golabi-Behmel syndrome type 2 (Orphanet:79022)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Somatotroph adenoma (Orphanet:96256)
Sotos syndrome (Orphanet:821)
Spinocerebellar ataxia - dysmorphism (Orphanet:1185)
Spondyloepimetaphyseal dysplasia, Bieganski type (Orphanet:168448)
Spondyloepimetaphyseal dysplasia, Geneviève type (Orphanet:168454)
Spondyloepiphyseal dysplasia, Cantu type (Orphanet:163654)
Spondylometaphyseal dysplasia, Golden type (Orphanet:168544)
Temtamy syndrome (Orphanet:1777)
Tetrasomy 12p (Orphanet:884)
Thyroid ectopia (Orphanet:95712)
Thyroid hemiagenesis (Orphanet:95719)
Thyroid hypoplasia (Orphanet:95720)
Torg-Winchester syndrome (Orphanet:3460)
Transient congenital hypothyroidism (Orphanet:178045)
Trisomy 17p (Orphanet:261290)
WINCHESTER SYNDROME (OMIM:277950)
Williams syndrome (Orphanet:904)
Wilson-Turner syndrome (Orphanet:3459)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
Zimmermann-Laband syndrome (Orphanet:3473)