Flat face

Symptom Information:

Symptom ID: HPO:0012368
Synonyms:
Flat face [OMIM:Flat face]
Flat face [Orphanet:3100]
Quality:
Cross references:
Orphanet:3100 "Flat face" [Orphanet:3100]
OMIM: "Flat face" [OMIM:Flat face]
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)
                   Flat face(HPO:0012368)
MedDRA:
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)