Disease Information for Shawl scrotum syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Antiverted nostrils deformity
Broad flat nose/facies
Broad Philtrum
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Curved depression below lower lip
Prominent forehead/High forehead
Round face
Dermatoglyphic anomalies
Palm/simian crease (single)
Palmar crease variations/aberrancy
Widows peak hairline
Delayed male adolescence/pubescence
Scrotal edema/swelling
Shawl scrotum anomaly
Swelling of scrotum
Everted umbilicus/prominent
Poor weight gain/child
Large/protruding jaw/prognathism
Feet small/bulbous toes
Hyperextensible digits
Webbed fingers
Mental Deficiency Child
Hyperactivity, child/signs
Broad Feet
Broad thumb sign
Bulbous Toes
Cranial sutures ridging
Hyperextensible joints Laxity Instability
Incurved/fifth fingers
Metatarsal abduction
Metopic sutures hypoplastic ridging
Short fingers/toes (Brachydactyly)
Small nose
Short stature
Short stature Child
Downward sloping eyes/Antimongoloid slant
Large Corneas
Ptosis (blepharoptosis)
Anomalous ears/deformities
Thick/Fleshy Earlobes
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Boy patient
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Male
Population/Male-only/limit
Diagnostic Test Results
X-RAY
Xray/Cervical spine abnormal
Xray/Delayed bone age/slow epiphysis closures
Associated Diseases & Rule outs
Associated Disease & Complications
Astigmatism/eye
Atlanto/axial injury
Attention deficit disorder
Cryptorchidism
Dwarfism
Flat feet/pes planus
Growth retardation/failure
Hyperopia/Far Sighted
Hypertelorism/Wide Spaced Eyes
Inguinal Hernia
Limb deformities/anomalies
Malformed cervical vertebrae/fusions
Mental retardation
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Ophthalmoplegia
Pectus excavatum
Shawl Scrotum Syndrome
Spina bifida occulta
Strabismus
Syndactyly/Webbing
Vertebrae Anomalies
Vertebral anomalies
Webbed fingers or toes/congenital
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Genital, male (category)
CLASS/Scrotum involvement/disorder (ex)
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene locus Xp11.22
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (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, Synonym/Aarskog-Scott Syndrome, Synonym/Facial-digital-genital Syndrome, Synonym/Greig 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----------[Jablonski-NIH Archives]

70% normal mental development; 30% retarded

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External Links Related to Shawl scrotum 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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