Ectromelia (Amelia; Phocomelia; Sirenomelia; Hemimelia)

Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia.


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Phocomelia

Hemimelia in an amphibian affecting both calf and foot on one side

Fibular hemimelia

Bones of human lower extremity

Fibular hemimelia

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Fibular hemimelia

2-Methylbutyryl-CoA dehydrogenase deficiency has an autosomal recessive pattern of inheritance. The disorder is caused by a mutation in the 'ACADSB' gene, located on the long arm of human chromosome 10 (10q25-q26). It is inherited in an autosomal recessive manner, which means an affected individual must inherit one copy of the mutation from each parent.

Tetra-amelia syndrome

Nick Vujicic, a motivational speaker who was born with Tetra-amelia syndrome, speaking during the session

Tetra-amelia syndrome

Violetta, a performer from the 1920s with Tetra-amelia syndrome

Tetra-amelia syndrome

Diagnosis and therapies

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Symptoms and diagnosis

Symptoms:

    

Wikipedia

Phocomelia - WikipediaAnna Amelia Obermeyer - WikipediaList of Amelia Peabody characters - Wikipedia

More information

Reported cases - Summary of cases reported on this diseaseWHO - World Health OrganizationPubMed - A service of the National Library of Medicine and National Institutes of HealthMEDLINE - Literature from the National Library of MedicineMeSH - Medical Subject HeadingsDeCS - Health Sciences Descriptors

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