National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Tetraamelia-multiple malformations syndrome


Other Names:
Zimmer Taub Sova syndrome; Zimmer phocomelia
Categories:
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.
Last updated: 2/1/2012

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: 7/1/2020

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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