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

Pfeiffer Mayer syndrome


Other Names:
Short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2921

Definition
Preaxial polydactyly-colobomata-intellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive.

Visit the Orphanet disease page for more resources.
Last updated: 6/1/2006

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
30%-79% of people have these symptoms
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Global developmental delay 0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Iris coloboma
Cat eye
0000612
Preaxial polydactyly 0100258
Retinal coloboma
Hole in the back of the eye
0000480
5%-29% of people have these symptoms
Angle closure glaucoma 0012109
Moderately reduced visual acuity
Moderate visual impairment
0030515
Severely reduced visual acuity
Marked vision impairment
Severe visual impairment
Severely impaired vision
[ more ] 		0001141
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
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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

  • 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 Pfeiffer Mayer syndrome. Click on the link to view a sample search on this topic.

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