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Disease Information for Facial-digital-genital syndrome

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.

(Edit)

External Links Related to Facial-digital-genital syndrome

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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