Tetraamelia-multiple malformations syndrome

Tetraamelia-multiple malformations syndrome (also known as tetraamelia syndrome or Roberts-like tetraamelia) is an extremely rare and severe congenital disorder characterized by the complete absence of all four limbs (tetraamelia) accompanied by multiple additional malformations affecting various organ systems. This condition is typically detected prenatally or at birth and is often incompatible with life. The syndrome affects multiple body systems beyond the limbs. Key features include craniofacial anomalies (such as micrognathia, cleft lip and/or cleft palate), pulmonary hypoplasia or agenesis (underdeveloped or absent lungs), and anomalies of the urogenital system. Cardiac malformations, absence or malformation of the pelvis, and other skeletal defects may also be present. Some cases have been associated with mutations in the WNT3 gene, which plays a critical role in limb formation and embryonic development. The condition has been reported in consanguineous families, supporting an autosomal recessive inheritance pattern. Due to the severity of the malformations, particularly pulmonary involvement, most affected individuals do not survive the neonatal period. There is currently no curative treatment for this condition. Management is supportive and palliative, focusing on comfort care. Genetic counseling is recommended for affected families, particularly given the recurrence risk in autosomal recessive inheritance. Prenatal diagnosis through ultrasound can detect the absence of limbs and associated anomalies during pregnancy.

Common questions about Tetraamelia-multiple malformations syndrome