Disease Information for Craniocarpotarsal Dystrophy (Freeman Sheldon)

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Broad forehead/facies
Craniofacial Abnormalities/Congenital
Deep-Set Eyes
Face broad/flat midface
Facies particular
Full Cheeks
Long Philtrum/Facies
Mask-like facies
Sunken Cheek Bones
Unusual Chin/U or V shaped dimpling-scar
Anorexia in Infant
Dysphagia Swallowing Difficulties
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Feeding/Apetite Problems Child
High arched palate
Hypoplasia Narrow Maxilla
Microglossia/Small tongue
Narrow oral aperture/small mouth opening
Receding chin deformity
Contractures/hands/wrist
Delayed speech/language development
Intelligence normal
Speech Locution Problems
Asymmetric Limbs
Bossing forehead,infants
Congenitally deformed hands/feet involved/little else
Cranial asymmetry
Dysmorphic dwarfism/short stature
Foot deformity
Delayed speech development/impediment
Speech disturbance/motor
Voice/phonation problems
Lateral Asymmetry
Short stature
Short stature Child
Downward sloping eyes/Antimongoloid slant
Clinical Presentation & Variations
Presentation/Malformations Head Hands Feet
Presentation/Multiple deformities newborn (odd look)
Presentation/Recurrent respiratory infections
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
Diagnostic Test Results
X-RAY
Xray/Skull abnormality
Associated Diseases & Rule outs
Rule Outs
Arthrogryposis, multiplex, congenita
Associated Disease & Complications
Aspiration
Clubbed foot/congenital
Craniosynostosis
Hypertelorism/Wide Spaced Eyes
Hyperthermia, malignant
Limb deformities/anomalies
Micrognathia/congenital small chin
Pneumonia, aspiration
Strabismus
Disease Mechanism & Classification
Class
CLASS/Faces-cranio online database (ex)
CLASS/Extremities/Digits/Hand feet disorder (category)
CLASS/Skeletal (category)
Pathophysiology
Pathophysiology/Asymmetric deformities
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Congenital CNS disorder (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Craniocarpotarsal Dystrophy (Freeman Sheldon), Synonym/Distal Arthrogryposis type 2A, Synonym/Freeman-Sheldon syndrome, Synonym/Whistling face syndrome, Synonym/Whistling Face Syndrome-Windmill hands(FSS)
Definition

Freeman Sheldon Syndrome; Craniocarpotarsal dystrophy (dysplasia); Distal arthrogryposis type 2A; FSS

Whistling face syndrome; Whistling face-windmill vane hand syndrome; Freeman-Sheldon syndrome is a rare inherited disorder characterized by multiple contractures at birth, abnormalities of the head and face area, defects of the hands and feet, and skeletal malformations; Craniofacial abnormalities may consist of characteristic facial features that cause the individual to appear to be whistling; These features include an extremely small puckered mouth (microstomia); a "full" forehead appearance; unusually prominent cheeks; and thin, pursed lips; Affected infants may also have an unusually flat middle portion of the face, palate, an unusually small jaw (micrognathia), an abnormally small tongue (microglossia), and/or a raised, scar-like mark in the shape of an "H" or a "V" extending from the lower lip to the chin; Affected infants often have abnormalities affecting the eyes including widely-spaced deep-set eyes, crossed eyes (strabismus), and/or downslanting palpebral fissures; Malformations of the hands and feet are also characteristic;speech impairment; swallowing and eating difficulties; vomiting; failure

to thrive; and/or respiratory problems that may result in life-threatening complications; Freeman-Sheldon syndrome can be inherited as an autosomal dominant genetic trait; However, most cases occur randomly with no apparent cause (sporadically)-----------[NORD 2005]-----------------------

flat mask-like face, club feet, joint contractures usually involving the fingers and hands, and under-development of the cartilage of the nose; Intelligence is usually normal; Most of the features of this syndrome are due to muscle weakness; Freeman-Sheldon Syndrome is most recognizable by its facial dsplasia : Mouth: The mouth is small, with tight, pursed lips that look the person is attempting to whistle;

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External Links Related to Craniocarpotarsal Dystrophy (Freeman Sheldon)
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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