Round face
Symptom Information:
Symptom ID: | HPO:0000311 | |||||||||
Synonyms: |
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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) Round face(HPO:0000311) MedDRA: |
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Database Frequency: | 104 / 7739 | |||||||||
Resource: |
All diseases associated with this symptom:
2q37 microdeletion syndrome | (Orphanet:1001) |
3q29 microduplication | (Orphanet:251038) |
6q16 deletion syndrome | (Orphanet:171829) |
8q21.11 microdeletion syndrome | (Orphanet:284160) |
AARSKOG-SCOTT SYNDROME | (OMIM:305400) |
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:614613) |
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 | (OMIM:615954) |
ACTH-dependent Cushing syndrome | (Orphanet:99892) |
ACTH-independent Cushing syndrome | (Orphanet:99893) |
ACTH-independent macronodular adrenal hyperplasia | (Orphanet:189427) |
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 | (OMIM:170995) |
AURICULOCONDYLAR SYNDROME 1 | (OMIM:602483) |
AURICULOCONDYLAR SYNDROME 2 | (OMIM:614669) |
Aarskog-Scott syndrome | (Orphanet:915) |
Acromicric dysplasia | (Orphanet:969) |
Alagille syndrome | (Orphanet:52) |
Albright hereditary osteodystrophy | (Orphanet:665) |
Alström syndrome | (Orphanet:64) |
Arthrogryposis multiplex congenita | (Orphanet:1037) |
Auriculocondylar syndrome | (Orphanet:137888) |
Autosomal recessive spastic paraplegia type 49 | (Orphanet:320385) |
BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II | (OMIM:113301) |
BRACHYDACTYLY, TYPE E1 | (OMIM:113300) |
Bardet-Biedl syndrome 10 | (OMIM:615987) |
Barth syndrome | (Orphanet:111) |
Brachydactyly type E | (Orphanet:93387) |
Cherubism | (Orphanet:184) |
Congenital muscular dystrophy, Ullrich type | (Orphanet:75840) |
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome | (Orphanet:306504) |
Cushing disease | (Orphanet:96253) |
Cushing syndrome | (Orphanet:553) |
Cushing syndrome due to ectopic ACTH secretion | (Orphanet:99889) |
DESBUQUOIS DYSPLASIA 1 | (OMIM:251450) |
DESBUQUOIS DYSPLASIA 2 | (OMIM:615777) |
Deafness - enamel hypoplasia - nail defects | (Orphanet:3220) |
Desbuquois syndrome | (Orphanet:1425) |
Distal arthrogryposis type 5D | (Orphanet:329457) |
Distal monosomy 1q | (Orphanet:36367) |
Distal trisomy 18q | (Orphanet:1716) |
Dysosteosclerosis | (Orphanet:1782) |
Dyssegmental dysplasia, Rolland-Desbuquois type | (Orphanet:156731) |
Familial partial lipodystrophy, Dunnigan type | (Orphanet:2348) |
Familial visceral myopathy | (Orphanet:2604) |
Fibrochondrogenesis | (Orphanet:2021) |
Fountain syndrome | (Orphanet:3219) |
GELEOPHYSIC DYSPLASIA 1 | (OMIM:231050) |
Geleophysic dysplasia | (Orphanet:2623) |
Grubben-de Cock-Borghgraef syndrome | (Orphanet:2101) |
Heart defect - round face - congenital developmental delay | (Orphanet:1355) |
Hernandez-Aguirre Negrete syndrome | (Orphanet:2139) |
Hypertelorism, Teebi type | (Orphanet:1519) |
Hypertrichosis cubiti - short stature | (Orphanet:2220) |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2 | (OMIM:614069) |
Intellectual deficit - hypotonia - skin hyperpigmentation | (Orphanet:3050) |
Intellectual deficit, X-linked, Cantagrel type | (Orphanet:85277) |
Joubert syndrome with hepatic defect | (Orphanet:1454) |
Jung-Wolff-Back-Stahl syndrome | (Orphanet:2321) |
KBG syndrome | (Orphanet:2332) |
Kniest dysplasia | (Orphanet:485) |
Large congenital melanocytic nevus | (Orphanet:626) |
Lymphedema - atrial septal defects - facial changes | (Orphanet:86915) |
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:616051) |
Mandibulofacial dysostosis - macroblepharon - macrostomia | (Orphanet:357158) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Microcornea - glaucoma - absent frontal sinuses | (Orphanet:2536) |
Microspherophakia - metaphyseal dysplasia | (Orphanet:2551) |
Monosomy 18p | (Orphanet:1598) |
Monosomy 5p | (Orphanet:281) |
Multiple epiphyseal dysplasia | (Orphanet:251) |
Multiple epiphyseal dysplasia, Beighton type | (Orphanet:166011) |
Neuralgic amyotrophy | (Orphanet:2901) |
Neuroectodermal-endocrine syndrome | (Orphanet:2676) |
Neurogenic arthrogryposis multiplex congenita | (Orphanet:1143) |
Non-rhizomelic chondrodysplasia punctata | (Orphanet:176) |
OSTEOGENESIS IMPERFECTA, TYPE VII | (OMIM:610682) |
OSTEOGENESIS IMPERFECTA, TYPE VIII | (OMIM:610915) |
Orofaciodigital syndrome type 3 | (Orphanet:2752) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) | (OMIM:614866) |
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 | (OMIM:610489) |
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2 | (OMIM:610475) |
PREMATURE AGING SYNDROME, OKAMOTO TYPE | (OMIM:601811) |
Parana hard-skin syndrome | (Orphanet:2812) |
Perlman syndrome | (Orphanet:2849) |
Peters-plus syndrome | (Orphanet:709) |
Primary pigmented nodular adrenocortical disease | (Orphanet:189439) |
Pseudohypoparathyroidism type 1A | (Orphanet:79443) |
Pseudohypoparathyroidism type 1C | (Orphanet:79444) |
Pseudopseudohypoparathyroidism | (Orphanet:79445) |
Ring chromosome 1 | (Orphanet:1437) |
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE | (OMIM:613320) |
Short rib-polydactyly syndrome | (Orphanet:1505) |
Spondyloepimetaphyseal dysplasia, Shohat type | (Orphanet:93352) |
Spondyloepiphyseal dysplasia, Cantu type | (Orphanet:163654) |
Subaortic stenosis - short stature | (Orphanet:3191) |
TATTON-BROWN-RAHMAN SYNDROME | (OMIM:615879) |
Thoracomelic dysplasia | (Orphanet:1803) |
Tricho-dento-osseous syndrome | (Orphanet:3352) |
Trisomy 20p | (Orphanet:261318) |
Trisomy 4p | (Orphanet:1738) |
Trisomy 5p | (Orphanet:1742) |
Ulnar/fibula ray defect - brachydactyly | (Orphanet:52056) |
Weaver syndrome | (Orphanet:3447) |
Zellweger syndrome | (Orphanet:912) |