Description: Symptoms:

It is a muscoskeletal, genetic and congenital rare disease Abnormality of diaphragm, eyes, nose, ears, jaw
characterized by the absence of all four limbs. Since children Absent anus, spleen, kidney
with tetra-amelia syndrome have serious medical problems, Blockage of the rear opening of nasal cavity
most are stillborn or die shortly after birth. In total, 326 Cleft roof of mouth
cases of amelia were identified among 23,110,591 live births, Too much cerebrospinal fluid in the brain
stillbirths and abortions. Underdeveloped fallopian tube
Only one artery in the umbilical cord
Abnormally closed/no vagina
Causes: Underdeveloped limbs and lungs
Mutations in the WNT3
gene prevent cells from

Tetra-Amelia
producing functional
WNT3 protein, which
disrupts normal limb
formation. Parental
consanguinity appears to
account for at least some of THE UNEXPECTED
the few cases reported to
date.
disease

Treatment & Prevention:

In nearly all reported cases, pregnancy was terminated on
Affected structures: diagnosis of tetra-amelia or infants died after birth. It should
Tetra-amelia affects the WNT3 gene which is vital for protein encoding, be noted that absence of all extremities is not
responsible for development in the early days of a human: the embryo. It incompatible with life. They require specifically designed
also affects the the role of two members of the fibroblast growth factor wheelchairs with assistive technology and devices operated by
(FGF) superfamily; that is, FGF8 and FGF10. Phenotypic manifestations head, chin, or tongue movements. Management depends on
include craniofacial, urogenital, cardiopulmonary, nervous system, the severity of malformations and may involve interdisciplinary
and skeletal malformations. surgical interventions and support of medical disciplines.

https://rarediseases.info.nih.gov/diseases/5148/tetra-amelia-syndrome https://medlineplus.gov/genetics/condition/tetra-amelia-syndrome/ https://www.sciencedirect.com/science/article/pii/S0002929707618734

https://www.ncbi.nlm.nih.gov/books/NBK1276/