Abnormal facial shape

Symptom Information:

Symptom ID: HPO:0001999
Synonyms:
Craniofacial abnormalities [HPO:0001999]
Craniofacial dysmorphism [HPO:0001999]
Distinctive facies [HPO:0001999]
Dysmorphic facial features [HPO:0001999]
Dysmorphic facies [HPO:0001999]
Facial dysmorphism [HPO:0001999]
Unusual facial appearance [HPO:0001999]
Unusual facies [HPO:0001999]
Facial dysmorphism [Orphanet:3020]
Congenital anomaly of face (disorder) [Orphanet:3020]
Congenital deformity of face (disorder) [Orphanet:3020]
Dysmorphism (disorder) [Orphanet:3020]
Congenital anomaly of face [Orphanet:3020]
Dysmorphism [Orphanet:3020]
Craniofacial dysmorphism [OMIM:Craniofacial dysmorphism]
Distinctive facies [OMIM:Distinctive facies]
Dysmorphic facial features [OMIM:Dysmorphic facial features]
Dysmorphic facies [OMIM:Dysmorphic facies]
Facial dysmorphism [OMIM:Facial dysmorphism]
Unusual facial appearance [OMIM:Unusual facial appearance]
Unusual facies [OMIM:Unusual facies]
Dysmorphism [MedDRA:10066054]
Congenital anomalies of ear, face, and neck [MedDRA:10066054]
Face malformation [MedDRA:10066054]
Face malformation NOS [MedDRA:10066054]
Facial dysmorphism [MedDRA:10066054]
Other specified congenital anomalies of face and neck [MedDRA:10066054]
Other specified congenital anomaly of face and neck [MedDRA:10066054]
Unspecified congenital anomalies of face and neck [MedDRA:10066054]
Flat philtrum [MedDRA:10066054]
Dysmorphic facial features (1 patient) [OMIM:Dysmorphic facial features (1 patient)]
Dysmorphic facial features (in 1 patient) [OMIM:Dysmorphic facial features (in 1 patient)]
Dysmorphic facies (1 patient) [OMIM:Dysmorphic facies (1 patient)]
Dysmorphic facies (30%) [OMIM:Dysmorphic facies (30%)]
Facial dysmorphism (68%) [OMIM:Facial dysmorphism (68%)]
Facial dysmorphism (in some patients) [OMIM:Facial dysmorphism (in some patients)]
Facial dysmorphism (in up to 90%) [OMIM:Facial dysmorphism (in up to 90%)]
Mild facial dysmorphism may occur [OMIM,du)
Quality:
Cross references:
HPO:0002260 "Craniofacial dysmorphism" [Orphanet:3020]
Orphanet:3020 "Facial dysmorphism" [Orphanet:3020]
OMIM: "Craniofacial dysmorphism" [OMIM:Craniofacial dysmorphism]
OMIM: "Distinctive facies" [OMIM:Distinctive facies]
OMIM: "Dysmorphic facial features" [OMIM:Dysmorphic facial features]
OMIM: "Dysmorphic facies" [OMIM:Dysmorphic facies]
OMIM: "Facial dysmorphism" [OMIM:Facial dysmorphism]
OMIM: "Unusual facial appearance" [OMIM:Unusual facial appearance]
OMIM: "Unusual facies" [OMIM:Unusual facies]
OMIM: "Dysmorphic facial features (1 patient)" [OMIM:Dysmorphic facial features (1 patient)]
OMIM: "Dysmorphic facial features (in 1 patient)" [OMIM:Dysmorphic facial features (in 1 patient)]
OMIM: "Dysmorphic facies (1 patient)" [OMIM:Dysmorphic facies (1 patient)]
OMIM: "Dysmorphic facies (30%)" [OMIM:Dysmorphic facies (30%)]
OMIM: "Facial dysmorphism (68%)" [OMIM:Facial dysmorphism (68%)]
OMIM: "Facial dysmorphism (in some patients)" [OMIM:Facial dysmorphism (in some patients)]
OMIM: "Facial dysmorphism (in up to 90%)" [OMIM:Facial dysmorphism (in up to 90%)]
UMLS:C0266617 "Congenital anomaly of face" [Orphanet:3020]
UMLS:C1737329 "Dysmorphism" [Orphanet:3020]
Is a (Direct Parents):
MedDRA Musculoskeletal disorders congenital NEC
Orphanet Abnormality of the face
HPO         Abnormality of the face
HPO         Abnormality of the shape of the midface
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)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal disorders congenital NEC(MedDRA:10029513)
          Abnormal facial shape(HPO:0001999)
Database Frequency: 169 / 7739
Resource:

All diseases associated with this symptom:

15q13.3 microdeletion syndrome (Orphanet:199318)
17q11 microdeletion syndrome (Orphanet:97685)
17q11.2 microduplication syndrome (Orphanet:139474)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
1p36 deletion syndrome (Orphanet:1606)
22q11.2 deletion syndrome (Orphanet:567)
3-@METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT,AND NEUTROPENIA (OMIM:616271)
3-hydroxyisobutyric aciduria (Orphanet:939)
3C syndrome (Orphanet:7)
8q21.11 microdeletion syndrome (Orphanet:284160)
AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDEDBONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS (OMIM:600908)
AICA-ribosiduria (Orphanet:250977)
ALG13-CDG (Orphanet:324422)
Acroosteolysis, dominant type (Orphanet:955)
Adenylosuccinate lyase deficiency (Orphanet:46)
Aortic arch anomaly - peculiar facies - intellectual deficit (Orphanet:1110)
Arterial calcification, generalized, of infancy, 1 (OMIM:208000)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Aspartylglucosaminuria (Orphanet:93)
Autosomal recessive Emery-Dreifuss muscular dystrophy (Orphanet:98855)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
Bardet-Biedl syndrome 13 (OMIM:615990)
Bardet-Biedl syndrome 4 (OMIM:615982)
Bardet-Biedl syndrome 7 (OMIM:615984)
Beta-mannosidosis (Orphanet:118)
Bifunctional enzyme deficiency (Orphanet:300)
Brachymorphism - onychodysplasia - dysphalangism (Orphanet:1292)
CADDS (Orphanet:369942)
CHARCOT-MARIE-TOOTH DISEASE, GUADALAJARA NEURONAL TYPE (OMIM:118230)
CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KBFRAGILE SITE, DISTAMYCIN A TYPE, RARE, FRA(16)(p12.1), INCLUDED (OMIM:136570)
COG4-CDG (Orphanet:263501)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 (OMIM:615917)
CORTICOTROPIN-RELEASING HORMONE (OMIM:122560)
Camurati-Engelmann disease (Orphanet:1328)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Cataract-congenital heart disease-neural tube defect syndrome (Orphanet:314993)
Combined immunodeficiency with facio-oculo-skeletal anomalies (Orphanet:221139)
Combined oxidative phosphorylation defect type 2 (Orphanet:254920)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital short bowel syndrome (Orphanet:2301)
Costello syndrome (Orphanet:3071)
Craniosynostosis - intracranial calcifications (Orphanet:52054)
Criss-cross heart (Orphanet:1461)
Crouzon disease (Orphanet:207)
DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA (OMIM:221950)
Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit (Orphanet:71267)
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type (Orphanet:363444)
Diabetic embryopathy (Orphanet:1926)
Dihydropyrimidinuria (Orphanet:38874)
Dyschromatosis symmetrica hereditaria (Orphanet:41)
ECTODERMAL DYSPLASIA WITH MENTAL RETARDATION AND SYNDACTYLY (OMIM:600906)
EPILEPSY-TELANGIECTASIA (OMIM:226850)
Ectodermal dysplasia - blindness (Orphanet:1806)
Ehlers-Danlos syndrome, progeroid type (Orphanet:75496)
Endomyocardial fibroelastosis (Orphanet:2022)
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS (OMIM:227255)
FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES,AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
Femoral-facial syndrome (Orphanet:1988)
Fetal Gaucher disease (Orphanet:85212)
Focal facial dermal dysplasia (Orphanet:79133)
Free sialic acid storage disease (Orphanet:834)
Fucosidosis (Orphanet:349)
Gaucher disease type 2 (Orphanet:77260)
Gingival fibromatosis - facial dysmorphism (Orphanet:2025)
Glutaryl-CoA dehydrogenase deficiency (Orphanet:25)
Glycogen storage disease due to glycogen branching enzyme deficiency (Orphanet:367)
Gonadal dysgenesis, XY type - associated anomalies (Orphanet:1770)
Growth delay due to insulin-like growth factor I resistance (Orphanet:73273)
Growth hormone insensitivity syndrome (Orphanet:181393)
HOLOPROSENCEPHALY 5 (OMIM:609637)
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS (OMIM:610680)
HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITALABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES (OMIM:614684)
Harrod syndrome (Orphanet:2115)
Hennekam syndrome (Orphanet:2136)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Hirschsprung disease - nail hypoplasia - dysmorphism (Orphanet:2153)
Holoprosencephaly (Orphanet:2162)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hypohidrotic ectodermal dysplasia (Orphanet:238468)
Hypospadias - intellectual deficit, Goldblatt type (Orphanet:2261)
INTRAUTERINE GROWTH RETARDATION WITH INCREASED MITOMYCIN C SENSITIVITY (OMIM:600546)
Intellectual deficit - balding - patella luxation - acromicria (Orphanet:3041)
Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus (Orphanet:3044)
Intellectual deficit, Birk-Barel type (Orphanet:166108)
Intellectual deficit, X-linked - cubitus valgus - dysmorphism (Orphanet:85280)
Intellectual deficit, X-linked, Stevenson type (Orphanet:85325)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Isolated agammaglobulinemia (Orphanet:229717)
Isolated glycerol kinase deficiency (Orphanet:408)
Isolated sedoheptulokinase deficiency (ORPHA:440713)
Joubert syndrome 22 (OMIM:615665)
Laron syndrome (Orphanet:633)
Leprechaunism (Orphanet:508)
Lethal multiple pterygium syndrome (Orphanet:33108)
Lichstenstein syndrome (Orphanet:2390)
MEGAEPIPHYSEAL DWARFISM (OMIM:249230)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 (OMIM:615866)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,AND FACIAL DYSMORPHISM (OMIM:606242)
MENTAL RETARDATION, X-LINKED 14 (OMIM:300062)
MENTAL RETARDATION, X-LINKED 91 (OMIM:300577)
METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY (OMIM:614105)
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 (OMIM:616335)
Marden-Walker syndrome (Orphanet:2461)
McDonough syndrome (Orphanet:2471)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mowat-Wilson syndrome due to monosomy 2q22 (Orphanet:261537)
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism (Orphanet:280679)
Mucolipidosis type 3 (Orphanet:577)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mulibrey nanism (Orphanet:2576)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Multiple epiphyseal dysplasia, Al-Gazali type (Orphanet:166024)
NEPHROSIALIDOSIS (OMIM:256150)
NOONAN SYNDROME 5 (OMIM:611553)
Neonatal adrenoleukodystrophy (Orphanet:44)
Nephronophthisis 15 (OMIM:614845)
Nephronophthisis 18 (OMIM:615862)
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency (Orphanet:88639)
Noonan syndrome (Orphanet:648)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Ochoa syndrome (Orphanet:2704)
Omphalocele syndrome, Shprintzen-Goldberg type (Orphanet:3164)
Overgrowth - macrocephaly - facial dysmorphism (Orphanet:137634)
PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
PGM1-CDG (Orphanet:319646)
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Pelviscapular dysplasia (Orphanet:93333)
Perlman syndrome (Orphanet:2849)
Permanent neonatal diabetes mellitus (Orphanet:99885)
Pitt-Hopkins-like syndrome 2 (OMIM:614325)
Polysyndactyly - cardiac malformation (Orphanet:2934)
Pontocerebellar hypoplasia type 6 (Orphanet:166073)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Progressive non-infectious anterior vertebral fusion (Orphanet:2062)
Prolidase deficiency (Orphanet:742)
Pseudoaminopterin syndrome (Orphanet:221120)
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (Orphanet:88618)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase deficiency (Orphanet:765)
RIDDLE SYNDROME (OMIM:611943)
Rabson-Mendenhall syndrome (Orphanet:769)
Recombinant 8 syndrome (Orphanet:96167)
Rieger anomaly (Orphanet:91483)
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (Orphanet:353281)
Severe combined immunodeficiency due to adenosine deaminase deficiency (Orphanet:277)
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (Orphanet:369939)
Sialidosis type 2 (Orphanet:87876)
Syndromic multisystem autoimmune disease due to Itch deficiency (Orphanet:228426)
Sézary syndrome (Orphanet:3162)
Toriello-Lacassie-Droste syndrome (Orphanet:3339)
Transaldolase deficiency (Orphanet:101028)
Treacher-Collins syndrome (Orphanet:861)
Tricho-oculo-dermo-vertebral syndrome (Orphanet:3354)
Trisomy 20p (Orphanet:261318)
Waardenburg syndrome (Orphanet:3440)
Wolfram syndrome 2 (OMIM:604928)
X-linked complicated corpus callosum dysgenesis (Orphanet:1497)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked lethal multiple pterygium syndrome (Orphanet:79447)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)