lethal multiple pterygium syndrome
Findings
No curated finding names lethal multiple pterygium syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.
Definition from the Mondo Disease Ontology (MONDO:0009668), read 2026-09-29. CC BY 4.0.
Genes
5 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.
- CHRNA1HGNC:1955
- Strong · G2P · Autosomal recessive · 2015
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- CHRNDHGNC:1965
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- CHRNGHGNC:1967
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
- NEBHGNC:7720
- Supportive · Orphanet · Autosomal recessive · 2021
- RYR1HGNC:10483
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: lethal multiple pterygium syndrome
- Also called
- autosomal recessive lethal multiple pterygium syndromeLMPS