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  3. Cutis laxa, autosomal recessive type 2B
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Cutis laxa, autosomal recessive type 2B


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Other Names:
Cutis laxa with progeroid features
This disease is grouped under:
Cutis laxa

Symptoms Symptoms


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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 30 |
Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Hypotelorism
Abnormally close eyes
Closely spaced eyes
[ more ]
0000601
Percent of people who have these symptoms is not available through HPO
Agenesis of corpus callosum 0001274
Autosomal recessive inheritance 0000007
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Bowing of the long bones
Bowed long bones
Bowing of long bones
[ more ]
0006487
Broad forehead
Increased width of the forehead
Wide forehead
[ more ]
0000337
Bulbous nose 0000414
Congenital hip dislocation
Dislocated hip since birth
0001374
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
0000490
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Frontal bossing 0002007
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ]
0002020
Global developmental delay 0001263
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
0001511
Joint hypermobility
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
0001382
Large fontanelles
Wide fontanelles
0000239
Malar flattening
Zygomatic flattening
0000272
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
0011800
Narrow nasal ridge
Decreased width of nasal ridge
Pinched nose
Thin nasal ridge
[ more ]
0000418
Osteopenia 0000938
Prominent forehead
Pronounced forehead
Protruding forehead
[ more ]
0011220
Prominent superficial veins
Prominent veins
0001015
Protruding ear
Prominent ear
Prominent ears
[ more ]
0000411
Redundant skin
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ]
0001582
Scoliosis 0002650
Triangular face
Face with broad temples and narrow chin
Triangular facial shape
[ more ]
0000325
Showing of 30 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research


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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

  • Cutis Laxa Research Study
    University of Pittsburgh
    Dept. of Human Genetics
    A300 Crabtree Hall, GSPH
    130 De Soto Street
    Pittsburgh, PA 15261
    Telephone: 412-383-7369
    E-mail: cutislax@pitt.edu
    Website: http://www.cutislaxa.pitt.edu
    The Cutis Laxa Research Study is an ongoing project coordinated by the University of Pittsburgh. Their research focuses on identifying the genetic causes of cutis laxa in an effort to better understand the effect of gene mutations and develop new treatments. Use the provided contact information to learn more.

Learn More Learn More


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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.

Where to Start

  • Genetics Home Reference (GHR) contains information on Cutis laxa, autosomal recessive type 2B. This website is maintained by the National Library of Medicine.

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.
  • 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. 

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

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