Coarse facial features
Symptom Information:
Symptom ID: | HPO:0000280 | |||||||||
Synonyms: |
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Quality: | ||||||||||
Cross references: |
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Is a (Direct Parents): |
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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: |
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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) |