Round face

Symptom Information:

Symptom ID: HPO:0000311
Synonyms:
Round facial appearance [HPO:0000311]
Round facies [HPO:0000311]
Round, full face [HPO:0000311]
Round face [OMIM:Round face]
Round facial appearance [OMIM:Round facial appearance]
Round facies [OMIM:Round facies]
Round, full face [OMIM:Round, full face]
Round face [Orphanet:3040]
Round face (childhood) [OMIM:Round face (childhood)]
Quality:
Cross references:
Orphanet:3040 "Round face" [Orphanet:3040]
OMIM: "Round face" [OMIM:Round face]
OMIM: "Round facial appearance" [OMIM:Round facial appearance]
OMIM: "Round facies" [OMIM:Round facies]
OMIM: "Round, full face" [OMIM:Round, full face]
OMIM: "Round face (childhood)" [OMIM:Round face (childhood)]
Is a (Direct Parents):
HPO         Abnormal facial shape
Orphanet 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)
                   Round face(HPO:0000311)
MedDRA:
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)