Flat face
Symptom Information:
Symptom ID: | HPO:0012368 | ||||
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) Flat face(HPO:0012368) MedDRA: |
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Database Frequency: | 106 / 7739 | ||||
Resource: |
All diseases associated with this symptom:
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
ARTHROGRYPOSIS, DISTAL, TYPE 2A | (OMIM:193700) |
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES | (OMIM:109120) |
Abruzzo-Erickson syndrome | (Orphanet:921) |
Absent thumb - short stature - immunodeficiency | (Orphanet:2951) |
Achondrogenesis | (Orphanet:932) |
Achondrogenesis type 1A | (Orphanet:93299) |
Achondrogenesis type 1B | (Orphanet:93298) |
Achondrogenesis type 2 | (Orphanet:93296) |
Alagille syndrome | (Orphanet:52) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Apert syndrome | (Orphanet:87) |
Autosomal dominant Larsen syndrome | (Orphanet:503) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive Stickler syndrome | (Orphanet:250984) |
Autosomal recessive cutis laxa type 2, classic type | (Orphanet:357074) |
Autosomal recessive cutis laxa type 2A | (Orphanet:357058) |
Autosomal recessive omodysplasia | (Orphanet:93329) |
Bardet-Biedl syndrome 17 | (OMIM:615994) |
Bone dysplasia, lethal Holmgren type | (Orphanet:1842) |
Bowed tibiae - radial anomalies - osteopenia - fractures | (Orphanet:3331) |
CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE III | (OMIM:611929) |
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION | (OMIM:601088) |
CODAS syndrome | (Orphanet:1458) |
Campomelic dysplasia | (Orphanet:140) |
Camptodactyly syndrome, Guadalajara type 1 | (Orphanet:1327) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Chondrodysplasia with joint dislocations, gPAPP type | (Orphanet:280586) |
Cleft lip/palate - intestinal malrotation - cardiopathy | (Orphanet:2001) |
Congenital pulmonary lymphangiectasia | (Orphanet:2414) |
Connective tissue disorder due to lysyl hydroxylase-3 deficiency | (Orphanet:300284) |
Craniofacial-deafness-hand syndrome | (Orphanet:1529) |
DESBUQUOIS DYSPLASIA 2 | (OMIM:615777) |
Dislocation of the hip - dysmorphism | (Orphanet:2412) |
Distal monosomy 7q36 | (Orphanet:1636) |
Down syndrome | (Orphanet:870) |
Dysostosis, Stanescu type | (Orphanet:1798) |
Dyssegmental dysplasia, Rolland-Desbuquois type | (Orphanet:156731) |
Dyssegmental dysplasia, Silverman-Handmaker type | (Orphanet:1865) |
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 | (OMIM:615349) |
Ehlers-Danlos syndrome, vascular type | (Orphanet:286) |
Emery-Nelson syndrome | (Orphanet:1927) |
Eye defects - arachnodactyly - cardiopathy | (Orphanet:2725) |
Fine-Lubinsky syndrome | (Orphanet:1272) |
Flat face - microstomia - ear anomaly | (Orphanet:1968) |
Freeman-Sheldon syndrome | (Orphanet:2053) |
Grant syndrome | (Orphanet:2097) |
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 | (OMIM:616006) |
Hennekam syndrome | (Orphanet:2136) |
ICF syndrome | (Orphanet:2268) |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1 | (OMIM:242860) |
Kleefstra syndrome | (Orphanet:261494) |
Kyphomelic dysplasia | (Orphanet:1801) |
Larsen-like osseous dysplasia - short stature | (Orphanet:2370) |
Larsen-like syndrome, B3GAT3 type | (Orphanet:284139) |
Lethal Kniest-like dysplasia | (Orphanet:2347) |
Lethal Larsen-like syndrome | (Orphanet:2371) |
Leukocyte adhesion deficiency | (Orphanet:2968) |
MENTAL RETARDATION, X-LINKED 30 | (OMIM:300558) |
Mandibulofacial dysostosis - macroblepharon - macrostomia | (Orphanet:357158) |
Marden-Walker syndrome | (Orphanet:2461) |
Marfanoid habitus - intellectual deficit, autosomal recessive | (Orphanet:2463) |
Marshall syndrome | (Orphanet:560) |
Maxillo-nasal dysplasia | (Orphanet:1248) |
Metaphyseal acroscyphodysplasia | (Orphanet:1240) |
Microcornea - glaucoma - absent frontal sinuses | (Orphanet:2536) |
Microspherophakia - metaphyseal dysplasia | (Orphanet:2551) |
Monosomy 22q13 | (Orphanet:48652) |
Mucopolysaccharidosis type 7 | (Orphanet:584) |
Multiple epiphyseal dysplasia | (Orphanet:251) |
Multiple epiphyseal dysplasia, Beighton type | (Orphanet:166011) |
Multiple sulfatase deficiency | (Orphanet:585) |
Non-rhizomelic chondrodysplasia punctata | (Orphanet:176) |
OTOFACIOOSSEOUS-GONADAL SYNDROME | (OMIM:601976) |
Orofaciodigital syndrome type 10 | (Orphanet:2756) |
Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
Otopalatodigital syndrome | (Orphanet:669) |
Otopalatodigital syndrome type 1 | (Orphanet:90650) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
PEROXISOME BIOGENESIS DISORDER 3B | (OMIM:266510) |
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) | (OMIM:614866) |
Patent arterial duct | (Orphanet:706) |
Pfeiffer syndrome | (Orphanet:710) |
Rhizomelic chondrodysplasia punctata | (Orphanet:177) |
Rhizomelic chondrodysplasia punctata type 1 | (Orphanet:309789) |
Rhizomelic dysplasia, Patterson-Lowry type | (Orphanet:2831) |
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL | (OMIM:602613) |
Saethre-Chotzen syndrome | (Orphanet:794) |
Schwartz-Jampel syndrome | (Orphanet:800) |
Short rib-polydactyly syndrome, Beemer-Langer type | (Orphanet:93268) |
Short stature - craniofacial anomalies - genital hypoplasia | (Orphanet:2994) |
Spondyloepimetaphyseal dysplasia congenita, Strudwick type | (Orphanet:93346) |
Spondyloepimetaphyseal dysplasia with joint laxity | (Orphanet:93359) |
Spondyloepiphyseal dysplasia congenita | (Orphanet:94068) |
Subaortic stenosis - short stature | (Orphanet:3191) |
TMCO1 defect syndrome | (Orphanet:228407) |
Thanatophoric dysplasia | (Orphanet:2655) |
Thanatophoric dysplasia type 1 | (Orphanet:1860) |
Thanatophoric dysplasia type 2 | (Orphanet:93274) |
Thoracomelic dysplasia | (Orphanet:1803) |
Thymic-renal-anal-lung dysplasia | (Orphanet:3326) |
Trisomy 12p | (Orphanet:1699) |
Wiedemann-Steiner syndrome | (Orphanet:319182) |
X-linked dominant chondrodysplasia punctata | (Orphanet:35173) |
Zellweger syndrome | (Orphanet:912) |