Rare Neurology News

Disease Profile

Lethal congenital contracture syndrome 1

Prevalence
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.

Unknown

Age of onset

Neonatal

ICD-10

Q68.8

Inheritance

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

no.svg

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

rnn-autosomalrecessive.svg

X-linked
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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Multiple contracture syndrome, Finnish type; Lethal autosomal recessive syndrome of multiple congenital contractures

Categories

Congenital and Genetic Diseases; Lung Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1486

Definition
Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.

Visit the Orphanet disease page for more resources.

Symptoms

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:
HPO ID
80%-99% of people have these symptoms
Abnormality of the hip bone
Abnormality of the hips
0003272
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Pulmonary hypoplasia
Small lung
Underdeveloped lung

[ more ]

0002089
Short stature
Decreased body height
Small stature

[ more ]

0004322
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
30%-79% of people have these symptoms
Abnormal cortical bone morphology
0003103
Abnormality of the elbow
Abnormality of the elbows
0009811
Abnormality of the ribs
Rib abnormalities
0000772
Amniotic constriction ring
0009775
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion

[ more ]

0001376
Low-set, posteriorly rotated ears
0000368
Polyhydramnios
High levels of amniotic fluid
0001561
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures

[ more ]

0002757
Short neck
Decreased length of neck
0000470
Slender long bone
Long bones slender
Thin long bones

[ more ]

0003100
Webbed neck
Neck webbing
0000465
5%-29% of people have these symptoms
Abnormal form of the vertebral bodies
0003312
Percent of people who have these symptoms is not available through HPO
Abnormal thorax morphology
Abnormality of the chest
0000765
Abnormality of the amniotic fluid
0001560
Arthrogryposis multiplex congenita
0002804
Autosomal recessive inheritance
0000007
Edema
Fluid retention
Water retention

[ more ]

0000969
Hypoplasia of the musculature
Poorly developed skeletal musculature
Underdeveloped muscle

[ more ]

0009004
Neonatal death
Neonatal lethal
0003811
Paucity of anterior horn motor neurons
0007277
Widening of cervical spinal canal
0004571

Diagnosis

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.

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.

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 Lethal congenital contracture syndrome 1. Click on the link to view a sample search on this topic.