Sanjad-Sakati syndrome
Synonyms: HRD syndrome | Hypoparathyroidism-intellectual disability-dysmorphism syndrome | Hypoparathyroidism-short stature-intellectual disability-seizures syndrome | Richardson-Kirk syndrome | SSS
Sanjad-Sakati syndrome (SSS) also known as hypoparathyroidism – intellectual disability-dysmorphism is a rare multiple congenital anomaly syndrome mainly occurring in the Middle East and the Arabian Gulf countries characterized by intrauterine growth restriction at birth microcephaly congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy) severe growth retardation typical facial features (long narrow face deep-set eyes beaked nose floppy and large ears long philtrum thin lips and micrognathia) and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term) the latter differs from SSS by its normal intelligence and skeletal features.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Sanjad-Sakati syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Accessia Health Foundation
Accessia Health pioneered the patient assistance model for people living with chronic medical conditions. We provide financial assistance to pay for prescriptions, medical treatments and expenses, travel and insurance premiums. Our program services include healthcare education, specialized legal services, and case management. We’re leveraging our three decades of our entrepreneurial spirit to expand patient assistance support to serve today’s healthcare consumers. Serving diverse populations is our #1 goal and we seek partners who share our belief that all people deserve to have access to healthcare. Over $1.1 billion has been distributed to patients throughout the country, helping them navigate their way through the complexities of the healthcare system. You can help us do even more.
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
HypoPARAthyroidism Association, Inc
Our vision is a world without hypoPARAthyroidism. We work to improve the lives of people impacted by hypoPARAthyroidism through education, support, research, and advocacy.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.