tetraamelia-multiple malformations syndrome
Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
MONDO:0003847
hereditary disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0018234
dysostosis
is_a
MONDO:0019054
congenital limb malformation
is_a
TETAMS
related
TETRAAMELIA syndrome, autosomal recessive
related
Tetraamelia multiple malformations X-linked
related
Zimmer Taub Sova syndrome
related
Zimmer phocomelia
exact