Craniofacial Abnormalities (definition)

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ψ ψ	Craniofacial Abnormalities

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

GEN or unspecified; prefer specifics; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: CRANIOFACIAL ABNORM
Examples 22q11 Deletion Syndrome; Cleidocranial Dysplasia; Costello Syndrome; Craniofacial Dysostosis; Craniosynostoses; Donohue Syndrome; Holoprosencephaly; LEOPARD Syndrome; Loeys-Dietz Syndrome; Macrocephaly; Maxillofacial Abnormalities; Microcephaly; Noonan Syndrome; Orofaciodigital Syndromes; Plagiocephaly; Platybasia; Rubinstein-Taybi Syndrome; Silver-Russell Syndrome

Other names Craniofacial Abnormality; Abnormality, Craniofacial; Abnormalities, Craniofacial

Substance	Categories	Source
Arthrogryposis multiplex congenita whistling face	Arthrogryposis Craniofacial Abnormalities.
Potato nose	*Craniofacial Abnormalities Nose/abnormalities.
Pallister W syndrome	Abnormalities, Multiple Intellectual Disability *Craniofacial Abnormalities.
Oto-palato-digital syndrome, type 2	Hand Deformities, Congenital Osteochondrodysplasias *Craniofacial Abnormalities.
Fronto-facio-nasal dysplasia	Encephalocele Eye Abnormalities Facial Asymmetry Craniofacial Abnormalities Nose/abnormalities.
Camptodactyly syndrome Guadalajara type 2	Fetal Growth Retardation Hand Deformities, Congenital Hip Dislocation, Congenital Craniofacial Abnormalities.
Calvarial hyperostosis	Hyperostosis Craniofacial Abnormalities.
Baker Vinters syndrome	Hydrocephalus Craniofacial Abnormalities Cerebral Aqueduct/abnormalities.
Larsen syndrome, dominant type	Cleft Lip Cleft Palate Dislocations/congenital Osteochondrodysplasias Tooth Abnormalities Craniofacial Abnormalities.
Oculocerebral hypopigmentation syndrome type Preus	Abnormalities, Multiple Pigmentation Disorders *Craniofacial Abnormalities.
Oculoauriculofrontonasal syndrome	Eye Abnormalities Respiratory System Abnormalities *Craniofacial Abnormalities Ear, External/abnormalities Spine/abnormalities.
Lujan Fryns syndrome	Marfan Syndrome Craniofacial Abnormalities *Mental Retardation, X-Linked.
Sener syndrome	Cysts Brain Diseases Ectodermal Dysplasia Craniofacial Abnormalities.
Jequier Kozlowski skeletal dysplasia	Abnormalities, Multiple Arthrogryposis Osteochondrodysplasias Craniofacial Abnormalities.
Seckel like syndrome type Buebel	Abnormalities, Multiple Dwarfism *Craniofacial Abnormalities.	Am J Med Genet. 1996;64(3):447-52
Seaver Cassidy syndrome	Abnormalities, Multiple Hypertelorism *Craniofacial Abnormalities Joints/abnormalities Scrotum/abnormalities.	Am J Med Genet. 1991; 41(4):405-9
Schwartz-Lelek syndrome	Bone Diseases, Developmental Hypertelorism Hyperostosis Craniofacial Abnormalities.
Neurofaciodigitorenal syndrome	Abnormalities, Multiple Growth Disorders Hand Deformities, Congenital Intellectual Disability *Craniofacial Abnormalities Kidney/abnormalities.	Am J Med Genet. 1982;11(3):329-36
Simosa cranio facial syndrome	*Craniofacial Abnormalities.
Splenogonadal fusion limb defects micrognatia	Limb Deformities, Congenital Craniofacial Abnormalities Gonads/abnormalities Spleen/abnormalities.
Grant syndrome	Abnormalities, Multiple Osteogenesis Imperfecta *Craniofacial Abnormalities.	Clin Genet. 1986;29(6):523-9
Gracile bone dysplasia	Bone Diseases, Developmental Craniofacial Abnormalities.
Gorlin Chaudhry Moss syndrome	Abnormalities, Multiple Ductus Arteriosus, Patent Hypertrichosis Craniofacial Abnormalities.
Gomez Lopez Hernandez syndrome	Abnormalities, Multiple Alopecia Growth Disorders Craniofacial Abnormalities *Neurocutaneous Syndromes Cerebellum/abnormalities Rhombencephalon/abnormalities.
Goldberg-Shprintzen megacolon syndrome	Hirschsprung Disease Craniofacial Abnormalities.
Ter Haar syndrome	Heart Defects, Congenital Osteochondrodysplasias/congenital *Craniofacial Abnormalities Developmental Disabilities.
Fountain syndrome	Abnormalities, Multiple Bone Diseases, Developmental Deafness Intellectual Disability *Craniofacial Abnormalities.
Hennekam lymphangiectasia lymphedema syndrome	Genital Diseases, Male Lymphangiectasis, Intestinal Lymphedema Craniofacial Abnormalities.
Brachytelephalangy characteristic facies Kallmann	Kallmann Syndrome Facies *Craniofacial Abnormalities.
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia	Foot Deformities, Congenital Polydactyly *Craniofacial Abnormalities Tibia/abnormalities.
Brachymesomelia renal syndrome	Abnormalities, Multiple Bone Diseases, Developmental Corneal Dystrophies, Hereditary Craniofacial Abnormalities *Kidney Diseases, Cystic/congenital.
Floating-harbor syndrome	Abnormalities, Multiple Growth Disorders Heart Septal Defects, Ventricular Craniofacial Abnormalities.
Alopecia, epilepsy, pyorrhea, mental subnormality	Alopecia/congenital Epilepsy Intellectual Disability Craniofacial Abnormalities.
Kosztolanyi syndrome	Arachnodactyly Abnormalities, Multiple Intellectual Disability Craniofacial Abnormalities.
Kapur Toriello syndrome	Abnormalities, Multiple Cleft Lip Cleft Palate Eye Abnormalities Intellectual Disability Craniofacial Abnormalities Intestines/abnormalities.
Leichtman Wood Rohn syndrome	Anophthalmos Craniofacial Abnormalities.
Morillo-Cucci Passarge syndrome	Abnormalities, Multiple Growth Disorders Hand Deformities, Congenital Joint Diseases Intellectual Disability Craniofacial Abnormalities.	Birth Defects Orig Artic Ser. 1975;11(2):380-3
Tollner Horst Manzke syndrome	Abnormalities, Multiple Hand Deformities, Congenital *Craniofacial Abnormalities.	Eur J Pediatr. 1981;136(2):207-10
Temtamy syndrome	Coloboma Craniofacial Abnormalities *Agenesis of Corpus Callosum.
Teebi syndrome	Abnormalities, Multiple Foot Deformities, Congenital Hand Deformities, Congenital Craniofacial Abnormalities.	Am J Med Genet. 1991;38(4):529-31
Teebi Shaltout syndrome	Abnormalities, Multiple Craniofacial Abnormalities Coccyx/abnormalities Hair/abnormalities.
Winter Shortland Temple syndrome	Skin Abnormalities Syndactyly *Craniofacial Abnormalities Intestines/abnormalities.
Zimmerman Laband syndrome	Abnormalities, Multiple Fibromatosis, Gingival Hand Deformities, Congenital Craniofacial Abnormalities.
Wiedemann Grosse Dibbern syndrome	Abnormalities, Multiple Growth Disorders Hypertrichosis Intellectual Disability *Craniofacial Abnormalities.	Atlas of Clinical Syndromes : A Visual Aid to Diagnosis for Clinicians and Practicing Physicians. (2nd ed.) London:Wolfe Publishing Ltd. 1989. Pp. 198-199.
Weaver syndrome	Abnormalities, Multiple Congenital Hypothyroidism Hand Deformities, Congenital Craniofacial Abnormalities.
Sonoda syndrome	Growth Disorders Heart Defects, Congenital *Craniofacial Abnormalities.
Schinzel-Giedion syndrome	Abnormalities, Multiple Hand Deformities, Congenital Intellectual Disability Nails, Malformed *Craniofacial Abnormalities.
Schaefer Stein Oshman syndrome	Abnormalities, Multiple Craniofacial Abnormalities.
SCARF syndrome	Abnormalities, Multiple Cutis Laxa Intellectual Disability Craniofacial Abnormalities Bone and Bones/abnormalities Genitalia/abnormalities.
Say Meyer syndrome	Abnormalities, Multiple Growth Disorders *Craniofacial Abnormalities.
Arthrogryposis multiplex congenita pulmonary hypoplasia	Abnormalities, Multiple Arthrogryposis Cryptorchidism Eye Abnormalities *Craniofacial Abnormalities.
Vertebral body fusion overgrowth	Bone Diseases, Developmental Growth Disorders *Craniofacial Abnormalities.
Van Maldergem Wetzburger Verloes syndrome	Abnormalities, Multiple Foot Deformities, Congenital Hand Deformities, Congenital Joint Instability Intellectual Disability Craniofacial Abnormalities.	Clin Genet. 1994;45(3):140-4
Van Buchem disease type 2	Osteosclerosis Craniofacial Abnormalities Mandible/abnormalities Skull/abnormalities.
Van Bogaert-Hozay syndrome	Blepharoptosis Decalcification, Pathologic Intellectual Disability Strabismus Craniofacial Abnormalities Acro-Osteolysis.
Tetrasomy X	Intellectual Disability Sex Chromosome Aberrations *Craniofacial Abnormalities.
Urioste Martinez-Frias syndrome	Abnormalities, Multiple Cryptorchidism Polydactyly Craniofacial Abnormalities *46, XY Disorders of Sex Development Mullerian Ducts/abnormalities.
Craniofrontonasal dysplasia	*Craniofacial Abnormalities.
Craniofacial dyssynostosis	*Craniofacial Abnormalities.
Craniofacial deafness hand syndrome	Abnormalities, Multiple Hearing Loss, Sensorineural *Craniofacial Abnormalities.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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