Craniofacial Abnormalities [kraniofaciální abnormality]

topical
77
Persistent link   https://www.medvik.cz/link/D019465
Definition

Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.

Annotation
general or unspecified; prefer specifics
DUI
D019465 MeSH Browser
CUI
M0028956
Previous indexing
Facial Bones (1966-1996); Skull/abnormalities (1966-1996)
History note
97
Public note
97

C Diseases
C05.660.077 Arthrogryposis 31
C05.660.207.103 22q11 Deletion Syndrome 2
C05.660.207.207 Cleidocranial Dysplasia 7
C05.660.207.219 Costello Syndrome 3
C05.660.207.231 Craniofacial Dysostosis 28
C05.660.207.240 Craniosynostoses 55
C05.660.207.325 Donohue Syndrome 1
C05.660.207.410 Holoprosencephaly 8
C05.660.207.525 LEOPARD Syndrome 11
C05.660.207.532 Loeys-Dietz Syndrome 7
C05.660.207.536 Megalencephaly 7
C05.660.207.620 Microcephaly 78
C05.660.207.690 Noonan Syndrome 52
C05.660.207.700 Orofaciodigital Syndromes 7
C05.660.207.707 Plagiocephaly 3
C05.660.207.720 Platybasia 12
C05.660.207.850 Rubinstein-Taybi Syndrome 12
C05.660.207.925 Silver-Russell Syndrome 3
C05.660.386 Funnel Chest 38
C05.660.417 Gastroschisis 28
C05.660.745 Pectus Carinatum 1
C05.660.906 Synostosis 29
C16.131.621.077 Arthrogryposis 31
C16.131.621.142 Campomelic Dysplasia 1
C16.131.621.174 Cervical Rib Syndrome 5
C16.131.621.207 Craniofacial Abnormalities 77
C16.131.621.207.103 22q11 Deletion Syndrome 2
C16.131.621.207.207 Cleidocranial Dysplasia 7
C16.131.621.207.231 Craniofacial Dysostosis 28
C16.131.621.207.240 Craniosynostoses 55
C16.131.621.207.410 Holoprosencephaly 8
C16.131.621.207.525 LEOPARD Syndrome 11
C16.131.621.207.532 Megalencephaly 7
C16.131.621.207.540 Maxillofacial Abnormalities 28
C16.131.621.207.620 Microcephaly 78
C16.131.621.207.690 Noonan Syndrome 52
C16.131.621.207.700 Orofaciodigital Syndromes 7
C16.131.621.207.707 Plagiocephaly 3
C16.131.621.207.720 Platybasia 12
C16.131.621.207.850 Rubinstein-Taybi Syndrome 12
C16.131.621.386 Funnel Chest 38
C16.131.621.417 Gastroschisis 28
C16.131.621.445 Hajdu-Cheney Syndrome 6
C16.131.621.449 Hip Dislocation, Congenital 332
C16.131.621.551 Klippel-Feil Syndrome 6
C16.131.621.568 Laryngomalacia 6
C16.131.621.585 Limb Deformities, Congenital 125
C16.131.621.745 Pectus Carinatum 1
C16.131.621.906 Synostosis 29
C16.131.621.953 Tracheobronchomalacia 9

3C syndrome Disease MeSH Browser

Abidi X-linked mental retardation syndrome Disease MeSH Browser

Alopecia, epilepsy, pyorrhea, mental subnormality Disease MeSH Browser

Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Disease MeSH Browser

Arthrogryposis multiplex congenita whistling face Disease MeSH Browser

Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies Disease MeSH Browser

Arthrogryposis-like hand anomaly and sensorineural deafness Disease MeSH Browser

Arthropathy, Erosive Disease MeSH Browser

Asymmetric Short Stature Syndrome Disease MeSH Browser

B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations Disease MeSH Browser

Baker Vinters syndrome Disease MeSH Browser

Birk-Barel Mental Retardation Dysmorphism Syndrome Disease MeSH Browser

Blepharochalasis And Double Lip Disease MeSH Browser

Blepharophimosis with Facial and Genital Anomalies and Mental Retardation Disease MeSH Browser

Brachymesomelia renal syndrome Disease MeSH Browser

Brachyphalangy, polydactyly, and tibial aplasia-hypoplasia Disease MeSH Browser

Brachytelephalangy characteristic facies Kallmann Disease MeSH Browser

Branchial Cleft Anomalies Disease MeSH Browser

CODAS syndrome Disease MeSH Browser

Calvarial hyperostosis Disease MeSH Browser

Camptodactyly syndrome Guadalajara type 2 Disease MeSH Browser

Cerebrofrontofacial Syndrome Disease MeSH Browser

Cerebrooculofacioskeletal Syndrome 2 Disease MeSH Browser

Cerebrooculofacioskeletal Syndrome 4 Disease MeSH Browser

Cerebrooculonasal Syndrome Disease MeSH Browser

Chromosome 18 Pericentric Inversion Disease MeSH Browser

Chromosome 2p16.1-P15 Deletion Syndrome Disease MeSH Browser

Chromosome 2q31.2 Deletion Syndrome Disease MeSH Browser

Chromosome Xq28 Duplication Syndrome Disease MeSH Browser

Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss Disease MeSH Browser

Combined Oxidative Phosphorylation Deficiency 2 Disease MeSH Browser

Congenital Cataracts, Facial Dysmorphism, And Neuropathy Disease MeSH Browser

Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence Disease MeSH Browser

Cortical Dysplasia-Focal Epilepsy Syndrome Disease MeSH Browser

Cranioacrofacial Syndrome Disease MeSH Browser

Craniodiaphyseal Dysplasia Disease MeSH Browser

Craniodiaphyseal Dysplasia, Autosomal Dominant Disease MeSH Browser

Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation Disease MeSH Browser

Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells Disease MeSH Browser

Craniofacial deafness hand syndrome Disease MeSH Browser

Craniofacial dyssynostosis Disease MeSH Browser

Craniofacioskeletal Syndrome Disease MeSH Browser

Craniofrontonasal dysplasia Disease MeSH Browser

Craniolenticulosutural Dysplasia Disease MeSH Browser

Craniomicromelic Syndrome Disease MeSH Browser

Craniorhiny Disease MeSH Browser

Curly hair-acral keratoderma-caries syndrome Disease MeSH Browser

Desbuquois syndrome Disease MeSH Browser

Diaphanospondylodysostosis Disease MeSH Browser

Digitorenocerebral Syndrome Disease MeSH Browser

Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism Disease MeSH Browser

Exchondrosis Of Pinna, Posterior Disease MeSH Browser

Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Disease MeSH Browser

Facial Dysmorphism with Multiple Malformations Disease MeSH Browser

Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly Disease MeSH Browser

Faciocardiomelic Syndrome Disease MeSH Browser

Fg Syndrome 5 Disease MeSH Browser

Floating-harbor syndrome Disease MeSH Browser

Forebrain Defects Disease MeSH Browser

Fountain syndrome Disease MeSH Browser

Fragile Site 16p12 Disease MeSH Browser

Fraser-Like Syndrome Disease MeSH Browser

Fronto-facio-nasal dysplasia Disease MeSH Browser

Frontonasal dysplasia Disease MeSH Browser

Frontoocular Syndrome Disease MeSH Browser

Frontootopalatodigital Osteodysplasia Disease MeSH Browser

Fryns-Aftimos Syndrome Disease MeSH Browser

Game Friedman Paradice syndrome Disease MeSH Browser

Genitopatellar Syndrome Disease MeSH Browser

Goldberg-Shprintzen megacolon syndrome Disease MeSH Browser

Gomez Lopez Hernandez syndrome Disease MeSH Browser

Gracile bone dysplasia Disease MeSH Browser

Grant syndrome Disease MeSH Browser

Hall Riggs mental retardation syndrome Disease MeSH Browser

Hanhart syndrome Disease MeSH Browser

Harrod Doman Keele syndrome Disease MeSH Browser

Haspeslagh Fryns Muelenaere syndrome Disease MeSH Browser

Hecht Scott syndrome Disease MeSH Browser

Hennekam lymphangiectasia lymphedema syndrome Disease MeSH Browser

Humeroradial Synostosis with Craniofacial Anomalies Disease MeSH Browser

Hypotonia-Cystinuria Syndrome Disease MeSH Browser

Ichthyosis cheek eyebrow syndrome Disease MeSH Browser

Jequier Kozlowski skeletal dysplasia Disease MeSH Browser

Jones Hersh Yusk syndrome Disease MeSH Browser

Kapur Toriello syndrome Disease MeSH Browser

Kleefstra Syndrome Disease MeSH Browser

Kosztolanyi syndrome Disease MeSH Browser

LIG4 Syndrome Disease MeSH Browser

Larsen syndrome, dominant type Disease MeSH Browser

Leichtman Wood Rohn syndrome Disease MeSH Browser

Lujan Fryns syndrome Disease MeSH Browser

Malpuech facial clefting syndrome Disease MeSH Browser

Mandibuloacral dysplasia with type B lipodystrophy Disease MeSH Browser

Mandibulofacial Dysostosis Syndrome, Bauru Type Disease MeSH Browser

Mandibulofacial Dysostosis with Macroblepharon and Macrostomia Disease MeSH Browser

Marshall syndrome Disease MeSH Browser

Marshall-Smith syndrome Disease MeSH Browser

Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature Disease MeSH Browser

Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Disease MeSH Browser

Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation Disease MeSH Browser

Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies Disease MeSH Browser

Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia Disease MeSH Browser

Midline brainstem cleft Disease MeSH Browser

Morillo-Cucci Passarge syndrome Disease MeSH Browser

Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency Disease MeSH Browser

Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay Disease MeSH Browser

NF1 Microdeletion Syndrome Disease MeSH Browser

Nablus mask-like facial syndrome Disease MeSH Browser

Neurofaciodigitorenal syndrome Disease MeSH Browser

Oculoauriculofrontonasal syndrome Disease MeSH Browser

Oculocerebral hypopigmentation syndrome type Preus Disease MeSH Browser

Oculodentodigital Dysplasia Disease MeSH Browser

Oculodentodigital Dysplasia, Autosomal Recessive Disease MeSH Browser

Oculootofacial Dysplasia Disease MeSH Browser

Orbital Margin, Hypoplasia of Disease MeSH Browser

Oto-Palato-digital syndrome type 1 Disease MeSH Browser

Oto-palato-digital syndrome, type 2 Disease MeSH Browser

Otocephaly Disease MeSH Browser

Otofacioosseous-Gonadal Syndrome Disease MeSH Browser

Otopalatodigital Spectrum Disorder Disease MeSH Browser

Pallister W syndrome Disease MeSH Browser

Pashayan syndrome Disease MeSH Browser

Pointer syndrome Disease MeSH Browser

Potato nose Disease MeSH Browser

Preauricular Fistulae, Congenital Disease MeSH Browser

Prieto X-linked mental retardation syndrome Disease MeSH Browser

Pseudoaminopterin syndrome Disease MeSH Browser

Reardon Hall Slaney syndrome Disease MeSH Browser

Riddle Syndrome Disease MeSH Browser

Roberts Syndrome Disease MeSH Browser

Robinow Syndrome Disease MeSH Browser

Rommen Mueller Sybert syndrome Disease MeSH Browser

Rozin Hertz Goodman syndrome Disease MeSH Browser

SCARF syndrome Disease MeSH Browser

Say Meyer syndrome Disease MeSH Browser

Schaefer Stein Oshman syndrome Disease MeSH Browser

Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias Disease MeSH Browser

Schinzel-Giedion syndrome Disease MeSH Browser

Schwartz-Lelek syndrome Disease MeSH Browser

Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities Disease MeSH Browser

Seaver Cassidy syndrome Disease MeSH Browser

Seckel like syndrome type Buebel Disease MeSH Browser

Sener syndrome Disease MeSH Browser

Short Stature And Facioauriculothoracic Malformations Disease MeSH Browser

Short Stature-Obesity Syndrome Disease MeSH Browser

Simosa cranio facial syndrome Disease MeSH Browser

Sonoda syndrome Disease MeSH Browser

Splenogonadal fusion limb defects micrognatia Disease MeSH Browser

Spondyloepimetaphyseal Dysplasia, Aggrecan Type Disease MeSH Browser

Spondyloocular Syndrome, Autosomal Recessive Disease MeSH Browser

Stickler Syndrome, Autosomal Recessive, COL9A1-Related Disease MeSH Browser

Teebi Shaltout syndrome Disease MeSH Browser

Telecanthus Disease MeSH Browser

Temtamy syndrome Disease MeSH Browser

Ter Haar syndrome Disease MeSH Browser

Tetrasomy X Disease MeSH Browser

Tollner Horst Manzke syndrome Disease MeSH Browser

Tricho-dento-osseous syndrome Disease MeSH Browser

Urioste Martinez-Frias syndrome Disease MeSH Browser

Van Bogaert-Hozay syndrome Disease MeSH Browser

Van Buchem disease type 2 Disease MeSH Browser

Van Maldergem Wetzburger Verloes syndrome Disease MeSH Browser

Vertebral body fusion overgrowth Disease MeSH Browser

Viljoen Kallis Voges syndrome Disease MeSH Browser

Weaver syndrome Disease MeSH Browser

Weaver-Like Syndrome Disease MeSH Browser

Wiedemann Grosse Dibbern syndrome Disease MeSH Browser

Winter Shortland Temple syndrome Disease MeSH Browser

Zimmerman Laband syndrome Disease MeSH Browser