Knowra Tetra-amelia syndrome Tetra-amelia syndrome Tetra-amelia syndrome is a rare congenital condition characterized by the absence of all four limbs. It can also involve abnormalities of organs such as the lungs, heart, and face.
Limb development : The embryonic processes that form and pattern the arms and legs. Disruption early in limb formation can result in the absence of all four limbs.
Wnt signaling pathway : A cell-signaling system that regulates development, tissue maintenance, and other biological processes. WNT3 acts in this pathway, which contributes to embryonic patterning.
Tetra-amelia syndrome type 1 : A form of tetra-amelia syndrome associated with biallelic variants in WNT3. This genetically defined form links the limb phenotype to a specific developmental gene.
Prenatal diagnosis : The identification of a condition in a fetus before birth. Ultrasound and genetic testing may detect limb absence or an associated cause before birth.
Congenital disorder : A condition present at birth, arising before birth or during development. Tetra-amelia is present at birth and reflects prenatal development.
Embryogenesis : The process by which an embryo forms and develops after fertilization. The syndrome originates through disruptions during embryonic development.
Roberts syndrome : A rare inherited disorder involving limb reduction, growth restriction, and characteristic facial differences. It can resemble tetra-amelia through severe limb abnormalities but has a distinct genetic basis.
Genetic counseling : A clinical service that explains genetic conditions, testing, inheritance, and reproductive risks. Inheritance information can help families understand recurrence risks and testing options.
Autosomal recessive inheritance : An inheritance pattern in which a condition usually occurs when both copies of a gene carry disease-causing variants. Many reported cases follow this inheritance pattern.
Lung agenesis : A congenital condition in which one or both lungs fail to develop. Severe cases can include lung underdevelopment or absence, affecting survival.
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