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 characterized by abnormalities affecting the skeleton, the head, and the eyes.^[1]^[2] Recurrent episodes of hypocalcemia in the blood are common.^[2] Intelligence is normal. Inheritance in most cases is autosomal dominant.^[1]

Last updated: 1/21/2010

Symptoms Symptoms

Kenny-Caffey syndrome type 2 is a congenital (present from birth) disorder which may first present with low birth weight. The condition usually affects several bones of the body.^[2] Affected individuals often have proportionate short stature, thickening of the long bones, thin marrow cavities in the bones (medullary stenosis), small hands and feet, and delayed closure of the anterior fontanel (the "soft-spot" on the skull).^[1]^[3] Eye abnormalities may include microphthalmos, myopia, cataracts and corneal / retinal calcification.^[4] Hypocalcemia may come and go and may be more likely to manifest during periods of metabolic stress (i.e., during postoperative periods, or during infections).^[1]^[2] Affected individuals may also have hypoparathyroidism and seizures. Males may have microorchidism (small testicles) or cryptorchidism. Anemia and dental abnormalities have also been reported.^[4] Intelligence is normal.^[1]

Last updated: 1/21/2010

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
High pitched voice	Occasional (present in 5%-29% of cases)
Abnormality of the medullary cavity of the long bones	-
Anemia	-
Autosomal dominant inheritance	-
Basal ganglia calcification	-
Congenital cataract	-
Delayed closure of the anterior fontanelle	-
Hypermetropia	-
Hypocalcemia	-
Hypoparathyroidism	-
Increased bone mineral density	-
Macrocephaly	-
Microphthalmia	-
Papilledema	-
Prominent forehead	-
Retinal calcification	-
Seizures	-
Severe short stature	-
Small for gestational age	-
Thickened cortex of long bones	-
Transient hypophosphatemia	-

Last updated: 5/8/2017

Cause Cause

Most cases of Kenny-Caffey syndrome type 2 are inherited in an autosomal dominant manner.^[1]^[3] The gene responsible for Kenny-Caffey syndrome type 2 has not yet been identified.

Last updated: 1/21/2010

Diagnosis Diagnosis

Kenny-Caffey syndrome type 2 is diagnosed based on clinical findings. Key diagnostic features include growth retardation of prenatal or postnatal onset, hypoparathyroidism, cortical thickening of the long bones and/or hyperostosis of the calvarium (excessive bone formation in the skull), and ocular abnormalities. X-ray studies of the skeleton may reveal distinctive thickening of the outer layers (cortexes) of the long bones along with unusually thin marrow cavities. Ocular abnormalities can be identified through ophthalmologic evaluation. Blood tests can detect episodes of low levels of calcium in the blood (hypocalcemia).^[2] Genetic testing for Kenny-Caffey syndrome type 2 is not yet available as the causative gene has not yet been identified.

Last updated: 1/21/2010

Treatment Treatment

Treatment is symptomatic and supportive. Hypocalcemia may be treated with vitamin D and calcium supplementation. Ocular abnormalities generally require corrective lenses.^[2]

Last updated: 1/21/2010

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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

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.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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.

Selected Full-Text Journal Articles

K K Naguib, S A Gouda, A Elshafey, F Mohammed, L Bastaki, AS Azab, SA Alawadi. Sanjad–Sakati syndrome/Kenny–Caffey syndrome type 1: A study of 21 cases in Kuwait. Eastern Mediterranean Health Journal. 2009:15(2);345-352.

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I have two children who may have Kenny-Caffey syndrome. Can you provide me with information about this syndrome, including how the diagnosis can be confirmed? See answer

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References References

Kenny-Caffey Syndrome, Type 2. Online Mendelian Inheritance in Man (OMIM). 2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=127000. Accessed 1/21/2010.
Diaz, GA. Kenny-Caffey Syndrome. NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2003;
Diaz GA. Kenny-Caffery Syndrome. National Organization for Rare Disorders (NORD). 2009; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Kenny-Caffey%20Syndrome. Accessed 1/21/2010.
Castriota-Scanderbeg A, Dallapiccola B. Kenny-Caffey Syndrome. Abnormal Skeletal Phenotypes From Simple Signs to Complex Diagnoses. Berlin: Springer; 2006;