Cousin syndrome

Title

Other Names:

Craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature; Pelviscapular dysplasia

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary

Cousin syndrome is a rare syndrome characterized mainly by short stature at birth, unusual facial appearance and skeletal abnormalities involving the shoulder blades and hips. Intelligence may vary from normal to moderately delayed.^[1] Mutations in the TBX15 gene inherited in an autosomal recessive pattern have been suggested as the cause of this condition.^[2]

Last updated: 10/18/2013

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
100% of people have these symptoms
Abnormality of the joint spaces of the elbow		0003943
Brachydactyly	Short fingers or toes	0001156
Congenital hip dislocation	Dislocated hip since birth	0001374
Elbow flexion contracture	Contractures of elbows Elbow contracture Elbow contractures [ more ]	0002987
Humeroradial synostosis		0003041
Hypoplastic ilia		0000946
Hypoplastic scapulae	Small shoulder blade	0000882
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Mesomelic leg shortening		0004987
Short femur	Short thighbone	0003097
Short neck	Decreased length of neck	0000470
80%-99% of people have these symptoms
Abnormality of the skull base		0002693
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Short stature	Decreased body height Small stature [ more ]	0004322
30%-79% of people have these symptoms
Abnormality of the pinna	Abnormally shaped ears Auricular malformation Deformed ears Malformed ears Simple ears [ more ]	0000377
Blepharophimosis	Narrow opening between the eyelids	0000581
Deeply set eye	Deep set eye Deep-set eyes Sunken eye [ more ]	0000490
Frontal bossing		0002007
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Low posterior hairline	Low hairline at back of neck	0002162
Redundant neck skin	Excess neck skin Excess skin over the neck Redundant skin folds of neck Redundant skin over the neck [ more ]	0005989
Stenosis of the external auditory canal		0000402
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Percent of people who have these symptoms is not available through HPO
2-3 toe syndactyly	Webbed 2nd and 3rd toes	0004691
4-5 toe syndactyly	Webbed 4th-5th toes	0004692
Abnormal facial shape	Unusual facial appearance	0001999
Absent proximal finger flexion creases		0006077
Alveolar ridge overgrowth	Overgrowth of gum ridge	0009085
Ambiguous genitalia, female		0000061
Ambiguous genitalia, male	Ambiguous genitalia in males	0000033
Anterior rounding of vertebral bodies		0008488
Autosomal recessive inheritance		0000007
Bell-shaped thorax		0001591
Camptodactyly	Permanent flexion of the finger or toe	0012385
Cleft palate		0000175
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Dislocated radial head		0003083
Facial hirsutism		0009937
Fibular aplasia	Absent calf bone	0002990
Hydranencephaly		0002324
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Hydronephrosis		0000126
Hypoplastic iliac wing		0002866
Hypoplastic ischia		0003175
Hypoplastic pubic bone		0003173
Joint contracture of the hand		0009473
Long clavicles	Long collarbone	0000890
Mesomelia		0003027
Microcornea		0000482
Microglossia	Abnormally small tongue Underdevelopment of the tongue [ more ]	0000171
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Microphthalmia	Abnormally small eyeball	0000568
Microtia, first degree		0011266
Prominent protruding coccyx	Prominent protruding tailbone	0008472
Rhizomelia		0008905
Short palpebral fissure	Short opening between the eyelids	0012745
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
Toe syndactyly	Fused toes Webbed toes [ more ]	0001770
Wrist flexion contracture		0001239

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2018

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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 Genetics Home Reference.

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.

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 Cousin syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

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. Submit a new question

I would like information on Cousin syndrome so that I may have an understanding what it is and how to help my friend when needed as I haven't found any helpful information on the internet for this condition.
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References References

Pr Raoul Hennekam. Pelviscapular dysplasia. Orphanet. December 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333. Accessed 10/10/2013.
Lausch, et al. Am J Hum Genet. November 17, 2008; 83:649-655. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668032/. Accessed 10/10/2013.

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