Rare Neurology News

Disease Profile

Multiple pterygium syndrome lethal type

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Pterygium syndrome multiple lethal type; Lethal multiple pterygium syndrome; LMPS


Congenital and Genetic Diseases


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.[1] 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, and bone fractures. Both X-linked and autosomal recessive inheritance have been proposed.[1][2] Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.[2]


This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
Percent of people who have these symptoms is not available through HPO
Abnormal cervical curvature
Abnormal neck curve
Abnormal facial shape
Unusual facial appearance
Absent muscles since birth
Autosomal recessive inheritance
Cleft palate
Cleft roof of mouth
Cystic hygroma
Depressed nasal ridge
Flat nose
Recessed nasal ridge

[ more ]

Fluid retention
Water retention

[ more ]

Eye folds
Prominent eye folds

[ more ]

Fetal akinesia sequence
Flexion contracture
Flexed joint that cannot be straightened
Wide-set eyes
Widely spaced eyes

[ more ]

Hypoplastic heart
Small heart
Underdeveloped heart

[ more ]

Increased susceptibility to fractures
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures

[ more ]

Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

Joint dislocation
Joint dislocations
Recurrent joint dislocations

[ more ]

Low-set ears
Low set ears
Lowset ears

[ more ]

Malignant hyperthermia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

Multiple pterygia
High levels of amniotic fluid
Pulmonary hypoplasia
Small lung
Underdeveloped lung

[ more ]

Short finger
Stubby finger
Thin ribs
Slender ribs
Vertebral fusion
Spinal fusion


Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.


    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • Genetics Home Reference (GHR) contains information on Multiple pterygium syndrome lethal type. This website is maintained by the National Library of Medicine.

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Multiple pterygium syndrome lethal type. Click on the link to view a sample search on this topic.


          1. Multiple pterygium syndrome, lethal type. Orphanet. 2006; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10308&Disease_Disease_Search_diseaseGroup=Multiple-pterygium-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Lethal-multiple-pterygium-syndrome&tit. Accessed 7/21/2011.
          2. Multiple pterygium syndrome, lethal type. Online Mendelian Inheritance of Man (OMIM). April 2008; https://www.ncbi.nlm.nih.gov/omim/253290. Accessed 7/21/2011.