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Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene.
Features include always present findings: Polyhydramnios, Congenital contracture, Decreased fetal movement, and Joint stiffness present at birth (arthrogryposis multiplex congenita) and others; and common findings: Macrocephaly.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Pregnancy and birth | 3 | Congenital contracture, Decreased fetal movement, Absence of stomach bubble on fetal sonography |
Muscles | 2 | Congenital contracture, Joint stiffness present at birth (arthrogryposis multiplex congenita) |
Head and neck | 1 | Macrocephaly |
ZBTB42 function has not been fully characterized.
Lethal congenital contracture syndrome 6 is associated with mutations in the ZBTB42 gene on chromosome 14.
Genetic testing for ZBTB42 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 5 always present features, 1 common feature.
No clinical trials have been registered for lethal congenital contracture syndrome 6.
2 publications have been identified in PubMed for lethal congenital contracture syndrome 6. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).
Saad AK (2025). [PMID: 39763084](https://pubmed.ncbi.nlm.nih.gov/39763084/). *Clin Genet*. [Case Report / Case Series]
Turgut GT (2024). [PMID: 38278647](https://pubmed.ncbi.nlm.nih.gov/38278647/). *Clin Genet*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:47 AM UTC
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Online Mendelian Inheritance in Man