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- Disease Information
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Disease Processes ▼
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Disease Information for Shawl scrotum syndrome
- 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
- 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)