Rare Oncology News

Disease Profile

Tetra-amelia syndrome

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Antenatal

ICD-10

Q73.0

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

no.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)

Tetra-amelia; Tetra-amelia, autosomal recessive; Tetraamelia, autosomal recessive;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

Tetra-amelia syndrome is a very rare disorder characterized by the absence of all four limbs. This syndrome can also cause severe malformations of other parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. The lungs are underdeveloped in many cases, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth. The condition has been associated with a mutation in the WNT3 gene in one family, and it appears to be inherited in an autosomal recessive manner.[1][2] Treatment for those that survive depends upon the presence and severity of the associated symptoms and may require the coordinated efforts of a team of specialists.[2]

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
Percent of people who have these symptoms is not available through HPO
Abnormality of the diaphragm
Diaphragm issues
Diaphragmatic defect

[ more ]

0000775
Absent external genitalia
0000042
Adrenal gland agenesis
0011743
Anal atresia
Absent anus
0002023
Asplenia
Absent spleen
0001746
Autosomal recessive inheritance
0000007
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Choanal atresia
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity

[ more ]

0000453
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Gastroschisis
0001543
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypoplasia of the fallopian tube
Underdeveloped fallopian tube
0008697
Hypoplastic pelvis
0008839
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Microphthalmia
Abnormally small eyeball
0000568
Peripheral pulmonary vessel aplasia
0005316
Pulmonary hypoplasia
Small lung
Underdeveloped lung

[ more ]

0002089
Renal agenesis
Absent kidney
Missing kidney

[ more ]

0000104
Single naris
Mono nostril
One nostril
Single nostril

[ more ]

0009932
Single umbilical artery
Only one artery in umbilical cord instead of two
0001195
Tetraamelia
0003057
Urethral atresia
0000068
Vaginal atresia
Abnormally closed or absent vagina
0000148

Diagnosis

The diagnosis of tetra-amelia syndrome can be established clinically (based on observed features) and is usually made on a routine prenatal ultrasound. The WNT3 gene has been associated with tetra-amelia syndrome, but the mutation detection frequency (how often a mutation will be found in an affected individual) is unknown because only a limited number of families have been studied.[2]

The Genetic Testing Registry (GTR) provides information about the genetic tests for tetra-amelia syndrome. 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.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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 Tetra-amelia syndrome. Click on the link to view a sample search on this topic.

References

  1. Tetra-amelia syndrome. Genetics Home Reference. February 2008; https://ghr.nlm.nih.gov/condition/tetra-amelia-syndrome.
  2. Stephan Niemann. Tetra-Amelia Syndrome. GeneReviews. August 2, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1276/.

Rare Oncology News