Facies (definition)

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Facies

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Definition: The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)

do not confuse with FACIAL EXPRESSION, a psychol response; coord IM with assoc dis (IM)

Substance	Categories	Source
Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features	Hypertrichosis Intellectual Disability *Facies.
Der Kaloustian Mcintosh Silver syndrome	Synostosis Developmental Disabilities Muscle Hypotonia Facies.
Bowen syndrome	Abnormalities, Multiple Contracture Glaucoma Facies.
McPherson Clemens syndrome	Abnormalities, Multiple Cleft Lip Cleft Palate Heart Defects, Congenital Facies Intestinal Volvulus.
McDonough syndrome	Abnormalities, Multiple Cryptorchidism Heart Defects, Congenital Kyphosis Intellectual Disability Facies Rectus Abdominis/abnormalities.
Filippi syndrome	Growth Disorders Intellectual Disability Microcephaly Syndactyly *Facies.
Palant cleft palate syndrome	Abnormalities, Multiple Cleft Palate Intellectual Disability Limb Deformities, Congenital *Facies.
Fryns syndrome	Facies Hernia, Diaphragmatic/congenital *Limb Deformities, Congenital.
Ectodermal dysplasia alopecia preaxial polydactyly	Alopecia Ectodermal Dysplasia Polydactyly Facies.
Pfeiffer Palm Teller syndrome	Facies Abnormalities, Multiple Dental Enamel Hypoplasia Growth Disorders *Joint Diseases.	J Pediatr. 1977;91(6):955-7
Aortic arch anomaly with peculiar facies and mental retardation	Intellectual Disability Facies Aorta, Thoracic/abnormalities.
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges	Foot Deformities, Congenital Hand Deformities, Congenital *Facies Fingers/abnormalities.
Lymphedema, microcephaly and chorioretinopathy syndrome	Lymphedema Microcephaly Facies Retinal Dysplasia.
Beemer Ertbruggen syndrome	Facies Heart Defects, Congenital *Hydrocephalus Bone and Bones/abnormalities Genitalia, Male/abnormalities.
Growth mental deficiency syndrome of Myhre	Facies Cryptorchidism Growth Disorders Hand Deformities, Congenital Hypertrophy Joint Diseases *Intellectual Disability.	J Med Genet. 2003; 40(7):546-51
Kozlowski-Krajewska syndrome	Hair Diseases Polydactyly Intellectual Disability Syndactyly *Facies.
Micromelic dysplasia, congenital, with dislocation of radius	Facies Osteochondrodysplasias Radius/abnormalities.
Kozlowski Rafinski Klicharska syndrome	Bone Diseases, Developmental Cataract Growth Disorders Intellectual Disability Psychomotor Disorders Facies.
Burn-Mckeown syndrome	Choanal Atresia Deafness/congenital Heart Defects, Congenital Facies.
Brunoni syndrome	Radius Dwarfism Ectodermal Dysplasia *Facies Thumb/abnormalities.
Pitt-Hopkins syndrome	Hyperventilation Intellectual Disability *Facies.
Multiple pterygium syndrome lethal type	Abnormalities, Multiple Hernia, Umbilical Pterygium Facies.
Shprintzen omphalocele syndrome	Pharynx Facies Abnormalities, Multiple Hernia, Umbilical Scoliosis Larynx.
Microcephaly deafness syndrome	Facies Deafness Intellectual Disability Microcephaly Ear/abnormalities.
Leri pleonosteosis	Hand Deformities, Congenital Joint Diseases/congenital Ossification, Heterotopic Facies.
Brachytelephalangy characteristic facies Kallmann	Kallmann Syndrome Facies *Craniofacial Abnormalities.
KBG syndrome	Abnormalities, Multiple Bone Diseases, Developmental Intellectual Disability Tooth Abnormalities *Facies.
Kaufman oculocerebrofacial syndrome	Eye Abnormalities Intellectual Disability Microcephaly Limb Deformities, Congenital *Facies.
Mowat-Wilson syndrome	Hirschsprung Disease Facies Intellectual Disability Microcephaly.
Thrombocytopenia Robin sequence	Growth Disorders Pierre Robin Syndrome Thrombocytopenia/congenital Facies *Agenesis of Corpus Callosum.
Spastic paraplegia 23	Pigmentation Disorders Vitiligo Spastic Paraplegia, Hereditary Facies.
Young Simpson syndrome	Congenital Hypothyroidism Intellectual Disability *Facies.
Winter Harding Hyde syndrome	Abnormalities, Multiple Contracture Facies Lissencephaly.
White forelock with malformations	Abnormalities, Multiple Hair Diseases Pigmentation Disorders Facies.	Clin Genet. 1980;17(6):437-42
Schrander-Stumpel Theunissen Hulsmans syndrome	Abnormalities, Multiple Cleft Palate Intellectual Disability Vitiligo *Facies.
Boomerang dysplasia	Dwarfism Osteochondrodysplasias *Facies.
Thomas Jewett Raines syndrome	Abnormalities, Multiple Microphthalmos Truncus Arteriosus, Persistent Facies Ear/abnormalities.
Thakker Donnai syndrome	Abnormalities, Multiple Muscular Atrophy *Facies.
Urofacial syndrome	Facies Urologic Diseases.
Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss	Abnormalities, Multiple Cleft Palate Hearing Loss, Sensorineural Facies *Craniofacial Abnormalities.
FACES syndrome	Anorexia Cachexia Eye Abnormalities Skin Diseases *Facies.
Partington Anderson syndrome	Growth Disorders Microcephaly *Facies Developmental Disabilities.	Am J Med Genet. 49(2):247-50
Radioulnar synostosis retinal pigment abnormalities	Growth Disorders Intellectual Disability Retinitis Pigmentosa Synostosis *Facies.	Genet Couns. 1991;2(4):237-40
Cyprus facial neuromusculoskeletal syndrome	Facies Arthrogryposis *Neuromuscular Diseases.
Crumpled helices and small mouth	Abnormalities, Multiple Cleft Palate Growth Disorders Micrognathism *Facies Fingers/abnormalities Hair/abnormalities Toes/abnormalities.
Crisponi syndrome	Fever Death, Sudden Hand Deformities, Congenital Trismus/congenital *Facies Muscle Contraction.
Clark-Baraitser syndrome	Growth Disorders Hydrocephalus Obesity Facies *Mental Retardation, X-Linked.
Ectrodactyly cardiopathy dysmorphism	Abnormalities, Multiple Heart Defects, Congenital Facies Lower Extremity Deformities, Congenital.
Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features	Ectodermal Dysplasia Hearing Loss, Sensorineural *Facies.
Feingold Trainer syndrome	Abnormalities, Multiple Cleft Palate Intellectual Disability Facies.
Night blindness skeletal anomalies unusual facies	Myopia Night Blindness *Facies.
Nicolaides Baraitser syndrome	Foot Deformities, Congenital Hypotrichosis Intellectual Disability Facies.
Osteolysis syndrome recessive	Growth Disorders Intellectual Disability Osteolysis Facies.
Davis Lafer syndrome	Intellectual Disability Facies.
Lichtenstein syndrome	Fibrous Dysplasia of Bone Neutropenia Immunologic Deficiency Syndromes Facies.	Birth Defects Orig. Art. Ser. 8(3): 178-190
Haspeslagh Fryns Muelenaere syndrome	Intellectual Disability Pterygium Facies Craniofacial Abnormalities.
Dubowitz syndrome	Eczema Growth Disorders Intellectual Disability Microcephaly *Facies.
Al Gazali Hirschsprung syndrome	Hirschsprung Disease Nail Diseases *Facies.
Al Gazali Aziz Salem syndrome	Abnormalities, Multiple Heart Defects, Congenital Intellectual Disability Facies.
Cardiofaciocutaneous syndrome	Ectodermal Dysplasia Failure to Thrive Heart Defects, Congenital Facies.

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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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