Please Remove Adblock
Adverts are the main source of Revenue for DoveMed. Please remove adblock to help us create the best medical content found on the Internet.

The topic Sanjad-Sakati Syndrome (SSS) you are seeking is a synonym, or alternative name, or is closely related to the medical condition Kenny-Caffey Syndrome Type 1.

Quick Summary:

  • Kenny-Caffey Syndrome Type 1 (KCS-1) is a rare congenital disorder caused by mutation(s) in the TBCE gene. It is characterized by growth retardation and thickening of long bones in the limbs. The disorder is inherited in an autosomal recessive fashion
  • Since KCS-1 is a genetic disorder, having a positive family history is a major risk factor for being diagnosed with the disorder. Additionally, individuals with parents who are close blood relatives, may be at risk
  • A low birth weight, hypoparathyroidism at birth, bone and skull abnormalities, small hands and feet, low serum calcium levels, and abnormal facial features are some of the other symptoms of Kenny-Caffey Syndrome Type 1
  • A physical examination, evaluation of symptoms, assessment of family medical history, examination of prominent bones using X-rays, and molecular genetic testing are often useful in making an accurate diagnosis of KCS Type 1
  • There is currently no cure for Kenny-Caffey Syndrome Type 1. However, calcium and vitamin D supplements may help the affected individuals manage the symptoms of the condition better
  • The prognosis of Kenny-Caffey Syndrome Type 1 is determined by the severity of the disorder. Many children born with KCS succumb by early infancy, due to the various complications and bone deformities that arise from the disorder
  • Presently, Kenny-Caffey Syndrome Type 1 is a genetic disorder that cannot be prevented. However, pre-pregnancy screening, especially among blood-related couples, may help in planning for a child. It can also provide an understanding of the potential risks involved with respect to KCS-1 better

Please find comprehensive information on Kenny-Caffey Syndrome Type 1 regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

What are some Useful Resources for Additional Information?

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126 Gaithersburg, MD 20898-8126
Toll-Free: (888) 205-2311
TTY: (888) 205-3223
International Telephone Access Number: (301) 251-4925
Fax: (301) 251-4911
Website: http://rarediseases.info.nih.gov

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue Danbury, CT 06810
Phone: (203) 744-0100
Toll-Free: (800) 999-6673
Fax: (203) 798-2291
Email: orphan@rarediseases.org
Website: http://www.rarediseases.org

American Pregnancy Association
1425 Greenway Drive, Suite 440 Irving, TX 75038
Email: questions@americanpregnancy.org
Website: http://americanpregnancy.org

References and Information Sources used for the Article:

INSERM US14 -- ALL RIGHTS RESERVED. (n.d.). The portal for rare diseases and orphan drugs. Retrieved January 12, 2017, from http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2323

Kenny-Caffey Syndrome. (n.d.). Retrieved January 06, 2017, from https://rarediseases.org/rare-diseases/kenny-caffey-syndrome/

(n.d.). Retrieved January 06, 2017, from https://rarediseases.info.nih.gov/diseases/8367/kenny-caffey-syndrome-type-1

A. (n.d.). Forgotten Diseases Research Foundation. Retrieved January 13, 2017, from http://www.forgottendiseases.org/assets/SanjadSakatiSyn.html

TBCE gene - Genetics Home Reference. (n.d.). Retrieved January 06, 2017, from https://ghr.nlm.nih.gov/gene/TBCE#conditions

Helpful Peer-Reviewed Medical Articles:

Diaz, G. A., Khan, K. T. S., & Gelb, B. D. (1998). The autosomal recessive Kenny–Caffey syndrome locus maps to chromosome 1q42–q43. Genomics, 54(1), 13-18.

Franceschini, P., Testa, A., Bogetti, G., Girardo, E., Guala, A., Lopez‐Bell, G., ... & Piccato, E. (1992). Kenny–Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. American Journal of Medical Genetics Part A, 42(1), 112-116.

Khan, S., Tahseen, K., Uma, R., Usha, R., Al Ghanem, M. M., Al Awadi, S. A., & Farag, T. I. (1997). Kenny‐Caffey syndrome in six Bedouin sibships: Autosomal recessive inheritance is confirmed. American Journal of Medical Genetics Part A, 69(2), 126-132.

Diaz, G. A., Gelb, B. D., Ali, F., Sakati, N., Sanjad, S., Meyer, B. F., & Kambouris, M. (1999). Sanjad‐Sakati and autosomal recessive Kenny‐Caffey syndromes are allelic: Evidence for an ancestral founder mutation and locus refinement. American Journal of Medical Genetics Part A, 85(1), 48-52.