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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
CAS Registry & name
Categories
Source
Arthrogryposis multiplex congenita whistling face
0
*Arthrogryposis
*Craniofacial Abnormalities.
Potato nose
0
*Craniofacial Abnormalities
Nose/abnormalities.
Pallister W syndrome
0
*Abnormalities, Multiple
*Intellectual Disability
*Craniofacial Abnormalities.
Oto-
palato-
digital syndrome, type 2
0
*Hand Deformities, Congenital
*Osteochondrodysplasias
*Craniofacial Abnormalities.
Fronto-
facio-
nasal dysplasia
0
*Encephalocele
*Eye Abnormalities
*Facial Asymmetry
*Craniofacial Abnormalities
Nose/abnormalities.
Camptodactyly syndrome Guadalajara type 2
0
*Fetal Growth Retardation
*Hand Deformities, Congenital
*Hip Dislocation, Congenital
*Craniofacial Abnormalities.
Calvarial hyperostosis
0
*Hyperostosis
*Craniofacial Abnormalities.
Baker Vinters syndrome
0
*Hydrocephalus
*Craniofacial Abnormalities
Cerebral Aqueduct/abnormalities.
Larsen syndrome, dominant type
0
*Cleft Lip
*Cleft Palate
*Dislocations/congenital
*Osteochondrodysplasias
*Tooth Abnormalities
*Craniofacial Abnormalities.
Oculocerebral hypopigmentation syndrome type Preus
0
*Abnormalities, Multiple
*Pigmentation Disorders
*Craniofacial Abnormalities.
Oculoauriculofrontonasal syndrome
0
*Eye Abnormalities
*Respiratory System Abnormalities
*Craniofacial Abnormalities
Ear, External/abnormalities
Spine/abnormalities.
Lujan Fryns syndrome
0
*Marfan Syndrome
*Craniofacial Abnormalities
*Mental Retardation, X-Linked.
Sener syndrome
0
*Cysts
*Brain Diseases
*Ectodermal Dysplasia
*Craniofacial Abnormalities.
Jequier Kozlowski skeletal dysplasia
0
*Abnormalities, Multiple
*Arthrogryposis
*Osteochondrodysplasias
*Craniofacial Abnormalities.
Seckel like syndrome type Buebel
0
*Abnormalities, Multiple
*Dwarfism
*Craniofacial Abnormalities.
Am J Med Genet. 1996;64(3):447-52
Seaver Cassidy syndrome
0
*Abnormalities, Multiple
*Hypertelorism
*Craniofacial Abnormalities
Joints/abnormalities
Scrotum/abnormalities.
Am J Med Genet. 1991; 41(4):405-9
Schwartz-
Lelek syndrome
0
*Bone Diseases, Developmental
*Hypertelorism
*Hyperostosis
*Craniofacial Abnormalities.
Neurofaciodigitorenal syndrome
0
*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
0
*Craniofacial Abnormalities.
Splenogonadal fusion limb defects micrognatia
0
*Limb Deformities, Congenital
*Craniofacial Abnormalities
Gonads/abnormalities
Spleen/abnormalities.
Grant syndrome
0
*Abnormalities, Multiple
*Osteogenesis Imperfecta
*Craniofacial Abnormalities.
Clin Genet. 1986;29(6):523-9
Gracile bone dysplasia
0
*Bone Diseases, Developmental
*Craniofacial Abnormalities.
Gorlin Chaudhry Moss syndrome
0
*Abnormalities, Multiple
*Ductus Arteriosus, Patent
*Hypertrichosis
*Craniofacial Abnormalities.
Gomez Lopez Hernandez syndrome
0
*Abnormalities, Multiple
*Alopecia
*Growth Disorders
*Craniofacial Abnormalities
*Neurocutaneous Syndromes
Cerebellum/abnormalities
Rhombencephalon/abnormalities.
Goldberg-
Shprintzen megacolon syndrome
0
*Hirschsprung Disease
*Craniofacial Abnormalities.
Ter Haar syndrome
0
*Heart Defects, Congenital
*Osteochondrodysplasias/congenital
*Craniofacial Abnormalities
Developmental Disabilities.
Fountain syndrome
0
*Abnormalities, Multiple
*Bone Diseases, Developmental
*Deafness
*Intellectual Disability
*Craniofacial Abnormalities.
Hennekam lymphangiectasia lymphedema syndrome
0
*Genital Diseases, Male
*Lymphangiectasis, Intestinal
*Lymphedema
*Craniofacial Abnormalities.
Brachytelephalangy characteristic facies Kallmann
0
*Kallmann Syndrome
*Facies
*Craniofacial Abnormalities.
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
0
*Foot Deformities, Congenital
*Polydactyly
*Craniofacial Abnormalities
Tibia/abnormalities.
Brachymesomelia renal syndrome
0
*Abnormalities, Multiple
*Bone Diseases, Developmental
*Corneal Dystrophies, Hereditary
*Craniofacial Abnormalities
*Kidney Diseases, Cystic/congenital.
Floating-
harbor syndrome
0
*Abnormalities, Multiple
*Growth Disorders
*Heart Septal Defects, Ventricular
*Craniofacial Abnormalities.
Alopecia, epilepsy, pyorrhea, mental subnormality
0
*Alopecia/congenital
*Epilepsy
*Intellectual Disability
*Craniofacial Abnormalities.
Kosztolanyi syndrome
0
*Arachnodactyly
*Abnormalities, Multiple
*Intellectual Disability
*Craniofacial Abnormalities.
Kapur Toriello syndrome
0
*Abnormalities, Multiple
*Cleft Lip
*Cleft Palate
*Eye Abnormalities
*Intellectual Disability
*Craniofacial Abnormalities
Intestines/abnormalities.
Leichtman Wood Rohn syndrome
0
*Anophthalmos
*Craniofacial Abnormalities.
Morillo-
Cucci Passarge syndrome
0
*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
0
*Abnormalities, Multiple
*Hand Deformities, Congenital
*Craniofacial Abnormalities.
Eur J Pediatr. 1981;136(2):207-10
Temtamy syndrome
0
*Coloboma
*Craniofacial Abnormalities
*Agenesis of Corpus Callosum.
Teebi syndrome
0
*Abnormalities, Multiple
*Foot Deformities, Congenital
*Hand Deformities, Congenital
*Craniofacial Abnormalities.
Am J Med Genet. 1991;38(4):529-31
Teebi Shaltout syndrome
0
*Abnormalities, Multiple
*Craniofacial Abnormalities
Coccyx/abnormalities
Hair/abnormalities.
Winter Shortland Temple syndrome
0
*Skin Abnormalities
*Syndactyly
*Craniofacial Abnormalities
Intestines/abnormalities.
Zimmerman Laband syndrome
0
*Abnormalities, Multiple
*Fibromatosis, Gingival
*Hand Deformities, Congenital
*Craniofacial Abnormalities.
Wiedemann Grosse Dibbern syndrome
0
*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
0
*Abnormalities, Multiple
*Congenital Hypothyroidism
*Hand Deformities, Congenital
*Craniofacial Abnormalities.
Sonoda syndrome
0
*Growth Disorders
*Heart Defects, Congenital
*Craniofacial Abnormalities.
Schinzel-
Giedion syndrome
0
*Abnormalities, Multiple
*Hand Deformities, Congenital
*Intellectual Disability
*Nails, Malformed
*Craniofacial Abnormalities.
Schaefer Stein Oshman syndrome
0
*Abnormalities, Multiple
*Craniofacial Abnormalities.
SCARF syndrome
0
*Abnormalities, Multiple
*Cutis Laxa
*Intellectual Disability
*Craniofacial Abnormalities
Bone and Bones/abnormalities
Genitalia/abnormalities.
Say Meyer syndrome
0
*Abnormalities, Multiple
*Growth Disorders
*Craniofacial Abnormalities.
Arthrogryposis multiplex congenita pulmonary hypoplasia
0
*Abnormalities, Multiple
*Arthrogryposis
*Cryptorchidism
*Eye Abnormalities
*Craniofacial Abnormalities.
Vertebral body fusion overgrowth
0
*Bone Diseases, Developmental
*Growth Disorders
*Craniofacial Abnormalities.
Van Maldergem Wetzburger Verloes syndrome
0
*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
0
*Osteosclerosis
*Craniofacial Abnormalities
Mandible/abnormalities
Skull/abnormalities.
Van Bogaert-
Hozay syndrome
0
*Blepharoptosis
*Decalcification, Pathologic
*Intellectual Disability
*Strabismus
*Craniofacial Abnormalities
*Acro-Osteolysis.
Tetrasomy X
0
*Intellectual Disability
*Sex Chromosome Aberrations
*Craniofacial Abnormalities.
Urioste Martinez-
Frias syndrome
0
*Abnormalities, Multiple
*Cryptorchidism
*Polydactyly
*Craniofacial Abnormalities
*46, XY Disorders of Sex Development
Mullerian Ducts/abnormalities.
Craniofrontonasal dysplasia
0
*Craniofacial Abnormalities.
Craniofacial dyssynostosis
0
*Craniofacial Abnormalities.
Craniofacial deafness hand syndrome
0
*Abnormalities, Multiple
*Hearing Loss, Sensorineural
*Craniofacial Abnormalities.
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