Disease Information for Facial-digital-genital syndrome

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Clinical Manifestations
Signs & Symptoms
Broad flat nose/facies
Broad Philtrum
Congenital facial deformities
Facial hemihypertrophy
Delayed male adolescence/pubescence
Everted umbilicus/prominent
Broad Feet
Broad thumb sign
Bulbous Toes
Short fingers/toes (Brachydactyly)
Small nose
Large Corneas
Anomalous ears/deformities
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Associated Diseases & Rule outs
Associated Disease & Complications
Astigmatism/eye
Cryptorchidism
Hyperopia/Far Sighted
Inguinal Hernia
Pectus excavatum
Strabismus
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Facial area manifestation/disorder (ex)
CLASS/Genital, male (category)
CLASS/Systemic/no comment (category)
Process
PROCESS/Congenital/developmental (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
Aarskog, Aarskog Scott syndrome, Aarskog Scott syndrome (ASS), Aarskog syndrome, Aarskog syndrome (disorder), Aarskog syndrome (dup) (disorder), Aarskog's syndrome, AAS, facial digital genital syndrome, facio digito genital syndrome, facio genital dysplasia, FACIODIGITOGENITAL SYNDROME, FACIOGENITAL DYSPLASIA, FGDY, Greig syndrome, Greig's Syndrome, shawl scrotum syndrome, Synonym/Aarskog's syndrome
Definition

Multiple limb and genital abnormalities with short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils joint laxity, shawl scrotum, and occasional mental retardation. The phenotype varies with age and postpuberal males have only minor remnant manifestations of the prepuberal phenotype.

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External Links Related to Facial-digital-genital syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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