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Disease Profile

Tetraamelia-multiple malformations 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

Infancy

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ICD-10

Q87.8

Inheritance

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

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

Zimmer Taub Sova syndrome; Zimmer phocomelia

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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

Orpha Number: 3301

Definition
Tetraamelia multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

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
Aplasia/Hypoplasia involving the nose
Decreased nasal size
Decreased size of nose

[ more ]

0009924
Aplasia/Hypoplasia involving the pelvis
0009103
Aplasia/Hypoplasia of the lungs
Absent/small lungs
Absent/underdeveloped lungs

[ more ]

0006703
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Microtia
Small ears
Underdeveloped ears

[ more ]

0008551
Oral cleft
Cleft of the mouth
0000202
Polyhydramnios
High levels of amniotic fluid
0001561
Tetraamelia
0003057
30%-79% of people have these symptoms
Abnormal lung lobation
0002101
Abnormality of the larynx
0001600
Abnormally ossified vertebrae
Abnormal bone maturation of vertebra
0100569
Agenesis of corpus callosum
0001274
Anal atresia
Absent anus
0002023
Aplasia/Hypoplasia of the nipples
Absent/small nipples
Absent/underdeveloped nipples

[ more ]

0006709
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Iris coloboma
Cat eye
0000612
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Microphthalmia
Abnormally small eyeball
0000568
Missing ribs
Absent ribs
Decreased rib number

[ more ]

0000921
Multicystic kidney dysplasia
0000003
Narrow mouth
Small mouth
0000160
Optic atrophy
0000648
Septo-optic dysplasia
0100842
Tracheal stenosis
Narrowing of windpipe
0002777
Vaginal atresia
Abnormally closed or absent vagina
0000148

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

  • 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.
  • 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 Tetraamelia-multiple malformations syndrome. Click on the link to view a sample search on this topic.