Tetraamelia-multiple malformations syndrome

Title

Other Names:

Zimmer Taub Sova syndrome; Zimmer phocomelia

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary

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

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.

Last updated: 2/1/2012

Symptoms 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.

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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

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Last updated: 3/1/2020

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Learn More 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.

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