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

Pseudoprogeria syndrome


Other Names:
Absent eyebrows and eyelashes with mental retardation; Mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2985

Definition
Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers.

Visit the Orphanet disease page for more resources.
Last updated: 7/1/2006

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.

Showing of 21 |
Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Absent eyebrow
Failure of development of eyebrows
0002223
Absent eyelashes
Failure of development of eyelashes
0000561
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
80%-99% of people have these symptoms
Alopecia
Hair loss
0001596
Bird-like facies
Bird-like facial appearance
0000320
Convex nasal ridge
Beaked nose
Hooked nose
Beaklike protrusion
Polly beak nasal deformity
[ more ] 		0000444
Cranium bifidum occultum 0004423
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Glaucoma 0000501
Joint stiffness
Stiff joint
Stiff joints
[ more ] 		0001387
Microcephaly
Small head circumference
Reduced head circumference
Decreased size of skull
Decreased circumference of cranium
Abnormally small skull
[ more ] 		0000252
Narrow nasal tip
Narrow tip of nose
Nasal tip, narrow
Nasal tip, pinched
Pinched nasal tip
Pinched tip of nose
Thin nasal tip
Thin tip of nose
[ more ] 		0011832
Progressive spastic quadriplegia 0002478
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Sparse hair 0008070
Spinalarachnoid cyst 0009745
Thin skin 0000963
1%-4% of people have these symptoms
Encephalocele 0002084
Short nose
Decreased length of nose
Shortened nose
[ more ] 		0003196
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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.
  • 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.

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