Disease Information for Grebe Syndrome

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Clinical Manifestations
Signs & Symptoms
Short arms/legs
Delayed speech/language development
Developmental milestones delayed
Intelligence normal
Mental Deficiency Child
Ankle valgus sign
Metatarsal Adductus
Postaxial polydactyly
Short fingers/toes (Brachydactyly)
Short Limbs Deformity
Growth/development delay
Short stature
Demographics & Risk Factors
Travel, Geographic & Climate Related Factors
Residence/travel/Brazil
Ethnic or Racial Factors
Brazilian population
Population Group
Child
Sex & Age Groups
Population/Child
Population/Children/all
Diagnostic Test Results
X-RAY
Xray/Bone abnormality
Xray/Fused Carpal Bones/Wrist
Xray/Proximal Phalanges Absent/Hand
Associated Diseases & Rule outs
Associated Disease & Complications
Chondrodystrophy
Clubbed foot/congenital
Dwarfism
Hallux Valgus
Mental retardation
Obesity
Polydactyly/Supernumery digits
Disease Mechanism & Classification
Class
CLASS/Skeletal (category)
Pathophysiology
Pathophysiology/Gene Cartilage morphogenic Protein-1 Mutation
Pathophysiology/Missense Mutation
Process
PROCESS/Congenital/developmental (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
Synonyms
Synonym
Synonym/Achondrogenesis Grebe/Brazil type, Synonym/Acromesomelic Dysplasia, Synonym/Dysproportionate Dwarfism, Synonym/Short-limbed dwarfism
Definition

Congenital absent/short limbs; legs more affected than arms. fingers and toes preserved but shortened. polydactyly and

valgus foot deformity. shortened toe like fingers. obesity common, normal facies Some are mentally retarded but many are not. autosomal recessive inheritance. short limbed dwarfism syndrome.

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External Links Related to Grebe 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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