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Disease Craniofacial Abnormalities

Name Craniofacial Abnormalities
Synonyms Abnormalities, Craniofacial | Abnormality, Craniofacial | Craniofacial Abnormality
Definition Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
Categories Congenital abnormality | Musculoskeletal disease
MeSH® ID D019465

Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references

Top ↑ Descendants

Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references
View node 22q11 Deletion Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  3C syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Abidi X-linked mental retardation syndrome
  ALAZAMI SYNDROME Has associated chemicals Has associated genes Has associated phenotype references
  ALAZAMI-YUAN SYNDROME Has associated chemicals Has associated genes Has associated phenotype references
  Alopecia, epilepsy, pyorrhea, mental subnormality
  Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
  Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
  Arthrogryposis-like hand anomaly and sensorineural deafness
  Arthrogryposis multiplex congenita whistling face
  Arthropathy, Erosive
  Asymmetric Short Stature Syndrome
  AU-KLINE SYNDROME Has associated chemicals Has associated genes Has associated phenotype references
  AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM Has associated chemicals Has associated genes Has associated phenotype references
  AXENFELD-RIEGER SYNDROME, TYPE 1 Has associated chemicals Has associated genes Has associated phenotype references
  Baker Vinters syndrome
  B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations
  Birk-Barel Mental Retardation Dysmorphism Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Blepharochalasis And Double Lip
  Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
  Brachymesomelia renal syndrome
  Brachyphalangy, polydactyly, and tibial aplasia-hypoplasia
  Brachytelephalangy characteristic facies Kallmann
  Branchial Cleft Anomalies
  Calvarial hyperostosis
  Camptodactyly syndrome Guadalajara type 2
  Cerebrofrontofacial Syndrome
  Cerebrooculofacioskeletal Syndrome 2 Has associated chemicals Has associated genes Has associated phenotype references
  Cerebrooculofacioskeletal Syndrome 4 Has associated chemicals Has associated genes Has associated phenotype references
  Cerebrooculonasal Syndrome
  CHROMOSOME 13q14 DELETION SYNDROME
  Chromosome 18 Pericentric Inversion
  Chromosome 2p16.1-P15 Deletion Syndrome
  Chromosome 2q31.2 Deletion Syndrome
  CHROMOSOME 8q21.11 DELETION SYNDROME
  Chromosome Xq28 Duplication Syndrome
  Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
View node Cleidocranial Dysplasia Has associated chemicals Has associated genes Has associated phenotype references
  COCOON SYNDROME Has associated chemicals Has associated genes Has associated phenotype references
  CODAS syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Combined Oxidative Phosphorylation Deficiency 2 Has associated chemicals Has associated genes Has associated phenotype references
  Congenital Cataracts, Facial Dysmorphism, And Neuropathy Has associated chemicals Has associated genes Has associated phenotype references
  CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY Has associated chemicals Has associated genes Has associated phenotype references
  CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER Has associated chemicals Has associated genes Has associated phenotype references
  CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA Has associated chemicals Has associated genes Has associated phenotype references
  Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence
  Costello Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  COUSIN SYNDROME Has associated chemicals Has associated genes Has associated phenotype references
  Cranioacrofacial Syndrome
  Craniodiaphyseal Dysplasia
  Craniodiaphyseal Dysplasia, Autosomal Dominant Has associated chemicals Has associated genes Has associated phenotype references
  Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
  CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME Has associated chemicals Has associated genes Has associated phenotype references
  Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells
  Craniofacial deafness hand syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node Craniofacial Dysostosis Has associated chemicals Has associated genes Has associated phenotype references
  Craniofacial dyssynostosis
  Craniofacioskeletal Syndrome
  Craniofrontonasal dysplasia Has associated chemicals Has associated genes Has associated phenotype references
  Craniolenticulosutural Dysplasia Has associated chemicals Has associated genes Has associated phenotype references
  Craniomicromelic Syndrome
  Craniorhiny
View node Craniosynostoses Has associated chemicals Has associated genes Has associated phenotype references
  Curly hair-acral keratoderma-caries syndrome
  DESANTO-SHINAWI SYNDROME Has associated chemicals Has associated genes Has associated phenotype references
  Desbuquois syndrome Has associated chemicals Has associated genes Has associated phenotype references
  DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR Has associated chemicals Has associated genes Has associated phenotype references
  Diaphanospondylodysostosis Has associated chemicals Has associated genes Has associated phenotype references
  Digitorenocerebral Syndrome
View node Donohue Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism Has associated chemicals Has associated genes Has associated phenotype references
  EVEN-PLUS SYNDROME Has associated chemicals Has associated genes Has associated phenotype references
  Exchondrosis Of Pinna, Posterior
  Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Has associated chemicals Has associated genes Has associated phenotype references
  Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
  FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE Has associated chemicals Has associated genes Has associated phenotype references
  Facial Dysmorphism with Multiple Malformations Has associated chemicals Has associated genes Has associated phenotype references
  Faciocardiomelic Syndrome
  Fg Syndrome 5
  Floating-harbor syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Forebrain Defects
  Fountain syndrome
View node Fragile Site 16p12 Has associated genes
  Fraser-Like Syndrome
  Fronto-facio-nasal dysplasia
  Frontonasal dysplasia Has associated chemicals Has associated genes Has associated phenotype references
  Frontoocular Syndrome
  Frontootopalatodigital Osteodysplasia
View node Fryns-Aftimos Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Game Friedman Paradice syndrome
  Genitopatellar Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Goldberg-Shprintzen megacolon syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Gomez Lopez Hernandez syndrome
  Gorlin Chaudhry Moss syndrome
  Gracile bone dysplasia Has associated chemicals Has associated genes Has associated phenotype references
  Grant syndrome
  Hall Riggs mental retardation syndrome
  Hanhart syndrome
  Harrod Doman Keele syndrome
  Haspeslagh Fryns Muelenaere syndrome
  Hecht Scott syndrome
  Hennekam lymphangiectasia lymphedema syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node Holoprosencephaly Has associated chemicals Has associated genes Has associated phenotype references
  Humeroradial Synostosis with Craniofacial Anomalies
  Hypotonia-Cystinuria Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Ichthyosis cheek eyebrow syndrome
  IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 Has associated chemicals Has associated genes Has associated phenotype references
  IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 Has associated chemicals Has associated genes Has associated phenotype references
  IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 Has associated chemicals Has associated genes Has associated phenotype references
  IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 Has associated chemicals Has associated genes Has associated phenotype references
  INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS Has associated chemicals Has associated genes Has associated phenotype references
  INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES Has associated chemicals Has associated genes Has associated phenotype references
  Jequier Kozlowski skeletal dysplasia
  Jones Hersh Yusk syndrome
  Kapur Toriello syndrome
  KEPPEN-LUBINSKY SYNDROME Has associated chemicals Has associated genes Has associated phenotype references
  Kleefstra Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM Has associated chemicals Has associated genes Has associated phenotype references
  KOSAKI OVERGROWTH SYNDROME Has associated chemicals Has associated genes Has associated phenotype references
  Kosztolanyi syndrome
  Larsen syndrome, dominant type Has associated chemicals Has associated genes Has associated phenotype references
  Leichtman Wood Rohn syndrome
View node LEOPARD Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  LIG4 Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 Has associated chemicals Has associated genes Has associated phenotype references
View node Loeys-Dietz Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Lujan Fryns syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Malpuech facial clefting syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Mandibuloacral dysplasia with type B lipodystrophy Has associated chemicals Has associated genes Has associated phenotype references
  Mandibulofacial Dysostosis Syndrome, Bauru Type
  Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
  Marshall-Smith syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Marshall syndrome Has associated chemicals Has associated genes Has associated phenotype references
View node Maxillofacial Abnormalities Has associated chemicals Has associated genes Has associated phenotype references Has associated exposure references
View node Megalencephaly Has associated chemicals Has associated genes Has associated phenotype references
  MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS Has associated chemicals Has associated genes Has associated phenotype references
  Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
  Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
View node Microcephaly Has associated chemicals Has associated genes Has associated phenotype references
  Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
  Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
  MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS Has associated chemicals Has associated genes Has associated phenotype references
  Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
  Morillo-Cucci Passarge syndrome
  MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM
  MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS Has associated chemicals Has associated genes Has associated phenotype references
  Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency Has associated chemicals Has associated genes Has associated phenotype references
  Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
  Nablus mask-like facial syndrome
  Neurofaciodigitorenal syndrome
  NF1 Microdeletion Syndrome
View node Noonan Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Oculoauriculofrontonasal syndrome
  Oculocerebral hypopigmentation syndrome type Preus
  Oculodentodigital Dysplasia Has associated chemicals Has associated genes Has associated phenotype references
  Oculodentodigital Dysplasia, Autosomal Recessive Has associated chemicals Has associated genes Has associated phenotype references
  Oculootofacial Dysplasia
  Orbital Margin, Hypoplasia of
View node Orofaciodigital Syndromes Has associated chemicals Has associated genes Has associated phenotype references
  Otocephaly
  Otofacioosseous-Gonadal Syndrome
  Otopalatodigital Spectrum Disorder
  Oto-Palato-digital syndrome type 1 Has associated chemicals Has associated genes Has associated phenotype references
  Oto-palato-digital syndrome, type 2 Has associated chemicals Has associated genes Has associated phenotype references
  Pallister W syndrome
  Pashayan syndrome
  Pitt-Hopkins-Like Syndrome 1 Has associated chemicals Has associated genes Has associated phenotype references
View node Plagiocephaly Has associated chemicals Has associated genes Has associated phenotype references
View node Platybasia
  Pointer syndrome
  Potato nose
  Preauricular Fistulae, Congenital
  Prieto X-linked mental retardation syndrome
  Pseudoaminopterin syndrome
  Reardon Hall Slaney syndrome
  Riddle Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Roberts Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Robinow Syndrome, Autosomal Dominant Has associated chemicals Has associated genes Has associated phenotype references
  Rommen Mueller Sybert syndrome
  Rozin Hertz Goodman syndrome
View node Rubinstein-Taybi Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Say Meyer syndrome
  SCARF syndrome
  Schaefer Stein Oshman syndrome
  Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias
  Schinzel-Giedion syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Schwartz-Lelek syndrome
  Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
  Seaver Cassidy syndrome
  Seckel like syndrome type Buebel
  Sener syndrome
  Short Stature And Facioauriculothoracic Malformations
  Short Stature-Obesity Syndrome
View node Silver-Russell Syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Simosa cranio facial syndrome
  Sonoda syndrome
  Splenogonadal fusion limb defects micrognatia
  Spondyloepimetaphyseal Dysplasia, Aggrecan Type Has associated chemicals Has associated genes Has associated phenotype references
  Spondyloocular Syndrome, Autosomal Recessive
  Stickler Syndrome, Autosomal Recessive, COL9A1-Related
  Teebi Shaltout syndrome
  Teebi syndrome
View node Telecanthus Has associated chemicals Has associated genes Has associated phenotype references
  Temtamy syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Ter Haar syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Tetrasomy X
  Tollner Horst Manzke syndrome
  Tricho-dento-osseous syndrome
  TRICHODENTOOSSEOUS SYNDROME Has associated chemicals Has associated genes Has associated phenotype references
  Urioste Martinez-Frias syndrome
  Van Bogaert-Hozay syndrome
  Van Buchem disease type 2 Has associated chemicals Has associated genes Has associated phenotype references
  Van Maldergem Wetzburger Verloes syndrome Has associated chemicals Has associated genes Has associated phenotype references
  VERHEIJ SYNDROME Has associated chemicals Has associated genes Has associated phenotype references
  Vertebral body fusion overgrowth
  Viljoen Kallis Voges syndrome
  Weaver-Like Syndrome
  Weaver syndrome Has associated chemicals Has associated genes Has associated phenotype references
  Wiedemann Grosse Dibbern syndrome
  WIEDEMANN-STEINER SYNDROME Has associated chemicals Has associated genes Has associated phenotype references
  Winter Shortland Temple syndrome Has associated chemicals Has associated genes Has associated phenotype references
  WITTEVEEN-KOLK SYNDROME Has associated chemicals Has associated genes Has associated phenotype references
  Zimmerman Laband syndrome Has associated chemicals Has associated genes Has associated phenotype references