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Face
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Definition
: The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.
usually NIM as site; soft parts
Examples
Cheek
;
Chin
;
Eye
;
Forehead
;
Mouth
;
Nasolabial Fold
;
Nose
;
Parotid Region
Other names
Faces
Substance
CAS Registry & name
Categories
Source
Char syndrome
0
*Abnormalities, Multiple
*Ductus Arteriosus, Patent
Face/abnormalities
Fingers/abnormalities.
Frontonasal dysplasia
0
*Congenital Abnormalities
Face/abnormalities.
Camptodactyly joint contractures and facial skeletal dysplasia
0
*Clubfoot
*Contracture
*Dysostoses
*Hand Deformities, Congenital
Face/abnormalities.
Oculodentoosseous dysplasia recessive
0
*Dental Enamel Hypoplasia
*Facial Asymmetry
*Microphthalmos
*Syndactyly
Face/abnormalities.
Kabuki syndrome
0
*Abnormalities, Multiple
*Hematologic Diseases
*Vestibular Diseases
Face/abnormalities.
Battaglia Neri syndrome
0
*Bone Diseases, Developmental
*Epilepsy
*Intellectual Disability
*Microcephaly
Face/abnormalities.
Gupta Patton syndrome
0
*Hearing Loss, Conductive
Ear, External/abnormalities
Face/abnormalities.
Sharma Kapoor Ramji syndrome
0
*Abnormalities, Multiple
*Fetal Growth Retardation
Face/abnormalities
Ribs/abnormalities.
Stoll Levy Francfort syndrome
0
*Bone Diseases, Developmental
*Hearing Loss, Conductive
Ear, External/abnormalities
Face/abnormalities.
Immunodeficiency syndrome, variable
0
*Immunologic Deficiency Syndromes
Face/abnormalities.
Kniest dysplasia
0
*Cleft Palate
*Dwarfism
*Hyaline Membrane Disease
Face/abnormalities.
Short stature syndrome, Brussels type
0
*Growth Disorders/congenital
*Osteochondrodysplasias
Face/abnormalities.
Lubani Al Saleh Teebi syndrome
0
*Anemia, Megaloblastic
*Cystic Fibrosis
*Intellectual Disability
*Helicobacter Infections
Face/abnormalities.
Zerres Rietschel Majewski syndrome
0
*Growth Disorders
*Intellectual Disability
*Microcephaly
*Syndactyly
Face/abnormalities.
Pena Shokeir syndrome Type 2
0
*Eye Abnormalities
Bone and Bones/abnormalities
Face/abnormalities.
Borjeson-
Forssman-
Lehmann syndrome
0
*Epilepsy
*Growth Disorders
*Hypogonadism
*Obesity
*Mental Retardation, X-Linked
Face/abnormalities
Fingers/abnormalities.
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities
0
*Ectromelia
Developmental Disabilities
Face/abnormalities.
Coffin-
Siris syndrome
0
*Abnormalities, Multiple
*Hand Deformities, Congenital
*Intellectual Disability
*Micrognathism
Face/abnormalities
Neck/abnormalities.
Facio thoraco genital syndrome
0
*Abnormalities, Multiple
Face/abnormalities
Genitalia/abnormalities
Thorax/abnormalities.
Ichthyosis tapered fingers midline groove up
0
*Ichthyosis
*Limb Deformities, Congenital
Face/abnormalities.
Devriendt syndrome
0
*Abnormalities, Multiple
*Growth Disorders
*Intellectual Disability
Face/abnormalities
Fingers/abnormalities.
Frias syndrome
0
*Foot Deformities, Congenital
*Growth Disorders
Face/abnormalities.
Hand and foot deformity with flat facies
0
*Limb Deformities, Congenital
Face/abnormalities.
Aarskog syndrome
0
*Dwarfism
*Hand Deformities, Congenital
*Heart Defects, Congenital
*Genetic Diseases, X-Linked
Face/abnormalities
Genitalia, Male/abnormalities.