Disease Information for Beals/arachnodactyly syndrome

Ads
Clinical Manifestations
Signs & Symptoms
Flexion contractures/extremities
Decreased ankle range of motion
Finger contractions/flexion (clinodactyly)
Fingers stiff/limited motion
Long thin fingers/toes (arachnodactyly)
Anomalous ears/deformities
Crumpled ears deformity
Clinical Presentation & Variations
Presentation/Hips Knees Elbows Ankles Contractures Long Digits
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Usually/No complications
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
Rule Outs
Arthrogryposis, multiplex, congenita
Ear deformities/congenital
Associated Disease & Complications
Ankle contracture
Congenital anomalies
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Skeletal (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
Beals arachnodactyly syndrome, Synonym/Arachnodactyly contractural, Beals type, Synonym/CCA (Beals), Synonym/Contractural arachnodactyly, congenital, Synonym/Ear abnomalies-contractures-dysplasia of bones/kyphoscoliosis, Synonym/Multiple contractures with arachnodactyly
Definition

Beals Syndrome; Arachnodactyly, Contractural Beals Type;

Beals-Hecht Syndrome; CCA; Contractural Arachnodactyly, Congenital; Contractures, Multiple with Arachnodactyly;

Ear Anomalies-Contractures-Dysplasia of Bone with Kyphoscoliosis; Beals auriculo-osteodysplasia syndrome;

Beals Syndrome is a rare genetic connective tissue disorder inherited as an autosomal dominant trait; The major features of this disorder are long, thin, spiderlike fingers and toes; congenital contractures of the fingers, hips, elbows, knees and ankles; and unusual ears that appear crumpled-------[NORD 2005]------------------

Congenital contractural arachnodactyly syndrome.

A heritable disorder of connective tissue affecting both sexes and present from birth, combining features of Marfan’s syndrome with arthrogryposis; It is mainly characterized by multiple congenital joint contractures, arachnodactyly, dolichostenomelia, kyphoscoliosis, and characteristic changes of the ear producing crumpled ears; Inheritance is autosomal dominant----------[whonamedit_com 2005]--------

(Edit)

External Links Related to Beals/arachnodactyly 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)
Ads