Abnormal facial shape
Symptom Information:
Symptom ID: | HPO:0001999 | ||||||||||||||||||||||||||||||||||||||
Synonyms: |
|
||||||||||||||||||||||||||||||||||||||
Quality: | |||||||||||||||||||||||||||||||||||||||
Cross references: |
|
||||||||||||||||||||||||||||||||||||||
Is a (Direct Parents): |
|
||||||||||||||||||||||||||||||||||||||
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) |