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tetraamelia-multiple malformations syndrome

MONDO:0010110Mondo

Findings

No curated finding names tetraamelia-multiple malformations syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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.

Definition from the Mondo Disease Ontology (MONDO:0010110), read 2026-09-29. CC BY 4.0.

Features

35 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Aplasia/Hypoplasia involving the noseHPOHP:0009924
- Very frequent (80% to 99% of cases)
Aplasia/Hypoplasia involving the pelvisHPOHP:0009103
- Very frequent (80% to 99% of cases)
Aplasia/Hypoplasia of the lungsHPOHP:0006703
- Very frequent (80% to 99% of cases)
HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
MicrotiaHPOHP:0008551
- Very frequent (80% to 99% of cases)
Orofacial cleftHPOHP:0000202
- Very frequent (80% to 99% of cases)

Show the remaining 23

Abnormally ossified vertebraeHPOHP:0100569
- Frequent (30% to 79% of cases)
Acromelia of the lower limbsHPOHP:0010494
- Frequent (30% to 79% of cases)
Agenesis of corpus callosumHPOHP:0001274
- Frequent (30% to 79% of cases)
Amelia involving the upper limbsHPOHP:0009812
- Frequent (30% to 79% of cases)
Anal atresiaHPOHP:0002023
- Frequent (30% to 79% of cases)
Aplasia/Hypoplasia of the nipplesHPOHP:0006709
- Frequent (30% to 79% of cases)

Genes

2 genes

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

RSPO2HGNC:28583
- Supportive · Orphanet · Autosomal recessive · 2021
WNT3HGNC:12782
- Supportive · Orphanet · Autosomal recessive · 2021

Where it sits

A kind of: congenital limb malformation
dysostosis
hereditary disease
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Narrower terms (2): tetraamelia syndrome 1
tetraamelia syndrome 2

Other names

1 name

Resolves to: tetraamelia-multiple malformations syndrome

Also called: Zimmer phocomelia