Cutis laxa, autosomal recessive type 2B

Title

Other Names:

Cutis laxa with progeroid features

This disease is grouped under:

Cutis laxa

Symptoms Symptoms

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
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

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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

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

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

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.

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