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

X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome


Other Names:
PRS; MRXS2; Mental retardation, X-linked, syndromic 2; PRS; MRXS2; Mental retardation, X-linked, syndromic 2; Prieto syndrome; Prieto-Badia-Mulas syndrome See More
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2958

Definition
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.

Epidemiology
It has been described in eight males from multiple generations of one family.

Etiology
The locus for the causative gene for this syndrome has been localised to the region between p11.22 and p21.1 on the X chromosome.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2019

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
Abnormal fundus morphology 0001098
Abnormal number of incisors
Abnormal number of front teeth
0011064
Bilateral talipes equinovarus
Club foot on both sides
0001776
Cerebral atrophy
Degeneration of cerebrum
0002059
Coxa valga 0002673
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Finger clinodactyly 0040019
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
High forehead 0000348
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Inguinal hernia 0000023
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Osteoporosis 0000939
Patellar subluxation
Partial knee cap dislocation
0010499
Prominent nose
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] 		0000448
Ptosis
Drooping upper eyelid
0000508
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] 		0000278
Skin dimple 0010781
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Supernumerary ribs
Extra ribs
0005815
Percent of people who have these symptoms is not available through HPO
11 pairs of ribs 0000878
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] 		0000164
Clinodactyly
Permanent curving of the finger
0030084
Muscular hypotonia
Low or weak muscle tone
0001252
Patellar dislocation
Dislocated kneecap
0002999
Radial deviation of finger 0009466
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
X-linked recessive inheritance 0001419
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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

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome. Click on the link to view a sample search on this topic.

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