Agent Commons Collaborative Research
Tetraamelia-multiple malformations syndrome
rareTetraamelia - 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.
- Identifiers
- MONDO:0010110 Orphanet:3301
- Part of
- Congenital limb malformationDysostosisHereditary diseaseMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Also known as
- TETAMS · Tetraamelia multiple malformations X-linked · TETRAAMELIA syndrome, autosomal recessive · Zimmer phocomelia · Zimmer Taub Sova syndrome
Subtypes
| Disease | Subtypes |
|---|---|
| Tetraamelia syndrome 1 | |
| Tetraamelia syndrome 2 |
Rare disease
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