Kenny-Caffey syndrome type 2

Title

Other Names:

KCS2; Dwarfism, cortical thickening of tubular bones and transient hypocalcemia; Kenny-Caffey syndrome, autosomal dominant

Categories:

Congenital and Genetic Diseases; Endocrine Diseases; Musculoskeletal Diseases

Summary Summary

Kenny-Caffey syndrome type 2 is a genetic disorder that affects the skeleton, head, and eyes. It causes frequent episodes of low blood calcium (hypocalcemia). This syndrome is caused by changes (pathogenic variants) in the FAM111A gene and is inherited in an autosomal dominant pattern. Treatment often includes calcium and vitamin D supplements and addressing any medical issues as they occur.^[1]^[2]

Last updated: 2/7/2018

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
80%-99% of people have these symptoms
Cortical thickening of long bone diaphyses		0005791
Delayed cranial suture closure		0000270
Short stature	Decreased body height Small stature [ more ]	0004322
Stenosis of the medullary cavity of the long bones		0100254
30%-79% of people have these symptoms
Abnormal circulating follicle-stimulating hormone level		0030346
Anemia		0001903
Basal ganglia calcification		0002135
Bilateral microphthalmos	Abnormally small eyeball on both sides	0007633
Calvarial osteosclerosis		0005450
Carious teeth	Dental cavities Tooth cavities Tooth decay [ more ]	0000670
Congenital hypoparathyroidism		0008198
Decreased skull ossification		0004331
Decreased testicular size	Small testes Small testis [ more ]	0008734
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Hypermetropia	Farsightedness Long-sightedness [ more ]	0000540
Hyperphosphatemia	High blood phosphate levels	0002905
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypocalcemic seizures	Low calcium seizures	0002199
Hypocalcemic tetany		0003472
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Papilledema		0001085
Postnatal growth retardation	Growth delay as children	0008897
Postnatal macrocephaly		0005490
Prominent forehead	Pronounced forehead Protruding forehead [ more ]	0011220
Retinal calcification		0007862
Thin long bone diaphyses	Thin shaft of long bone	0006470
5%-29% of people have these symptoms
Congenital cataract		0000519
High pitched voice		0001620
Persistence of primary teeth	Delayed loss of baby teeth Failure to lose baby teeth Retained baby teeth [ more ]	0006335
Percent of people who have these symptoms is not available through HPO
Abnormality of the medullary cavity of the long bones	Abnormality of the marrow cavity of the long bones	0100253
Autosomal dominant inheritance		0000006
Delayed closure of the anterior fontanelle		0001476
Hypocalcemia	Low blood calcium levels	0002901
Hypoparathyroidism		0000829
Increased bone mineral density	Increased bone density	0011001
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Microphthalmia	Abnormally small eyeball	0000568
Seizures	Seizure	0001250
Severe short stature	Dwarfism Proportionate dwarfism Short stature, severe [ more ]	0003510
Small for gestational age	Birth weight less than 10th percentile Low birth weight [ more ]	0001518
Thickened cortex of long bones		0000935
Transient hypophosphatemia		0008285

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

Last updated: 5/1/2018

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 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.

Where to Start

The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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 Kenny-Caffey syndrome type 2. Click on the link to view a sample search on this topic.

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.

Have a question? Contact a GARD Information Specialist.

References References

Kenny-Caffey Syndrome. National Organization for Rare Disorders. 2012; https://rarediseases.org/rare-diseases/kenny-caffey-syndrome/.
Kenny-Caffey syndrome type 2. Online Mendelian Inheritance in Man (OMIM). June 2, 2017; http://www.omim.org/entry/127000.

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