Disease Information for Craniocarpotarsal Dystrophy (Freeman Sheldon)

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
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
Population/Pediatrics population
Sex & Age Groups
Population/Child-Infant Only
Diagnostic Test Results
Xray/Skull abnormality
Associated Diseases & Rule outs
Rule Outs
Arthrogryposis, multiplex, congenita
Associated Disease & Complications
Clubbed foot/congenital
Hypertelorism/Wide Spaced Eyes
Hyperthermia, malignant
Limb deformities/anomalies
Micrognathia/congenital small chin
Pneumonia, aspiration
Disease Mechanism & Classification
CLASS/Faces-cranio online database (ex)
CLASS/Extremities/Digits/Hand feet disorder (category)
CLASS/Skeletal (category)
Pathophysiology/Asymmetric deformities
Pathophysiology/Maternal Chromosome mutation
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)
Craniocarpotarsal Dystrophy (Freeman Sheldon), Synonym/Distal Arthrogryposis type 2A, Synonym/Freeman-Sheldon syndrome, Synonym/Whistling face syndrome, Synonym/Whistling Face Syndrome-Windmill hands(FSS)

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;


External Links Related to Craniocarpotarsal Dystrophy (Freeman Sheldon)
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)