What is Raine syndrome?
Raine syndrome is a rare genetic syndrome with severe symptoms. Many infants with the condition are stillborn or die soon after birth. Recently there have been two cases of children with the syndrome surviving into early childhood, suggesting there may be a milder form of the syndrome. The syndrome has been reported in eight families, most of them having been of Middle Eastern origin. In many of the cases, the parents of the affected children were related by blood.
This syndrome is also known as:
Osteosclerotic Bone Dysplasia, Lethal; Osteomalacia, Sclerosing, with Cerebral Calcification; CSOCC;
What gene changes cause Raine syndrome?
Mutations in the FAM20C gene are responsible for the syndrome.
The syndrome is inherited in an autosomal recessive pattern.
What are the main symptoms of Raine syndrome?
Unique facial features of the syndrome include a small head, a depressed nasal bridge, a small nose, low-set ears, a sunken midface, and a triangular-shaped mouth. Exophthalmos, bulging out of the eyes, is a common symptom. Individuals tend also to have enlarged gums.
A main symptom of the syndrome is osteosclerosis, a hardening of the bones. Individuals may also have ribs that are formed irregularly.
Possible clinical traits/features:
Hypertelorism, Short stature, Hypoplasia of dental enamel, Hypophosphatemia, Gingival overgrowth, Depressed nasal bridge, Hydrocephalus, Highly arched eyebrow, High palate, Hydronephrosis, Bowing of the long bones, Brachydactyly, Elevated alkaline phosphatase, Exaggerated cupid’s bow, Enlarged thorax, Depressed nasal ridge, Malar flattening, Downslanted palpebral fissures, Arthrogryposis multiplex congenita, Protruding ear, Short neck, Wide mouth, Autosomal recessive inheritance, Plagiocephaly, Brachyturricephaly, Cerebral calcification, Choanal stenosis, Choanal atresia, Cleft palate, Thoracic hypoplasia, Pulmonary hypoplasia, Respiratory failure, Neonatal death, Protruding tongue, Microcephaly, Midface retrusion, Proptosis, Large fontanelles, Pectus excavatum, Mandibular prognathia, Micrognathia, Microdontia, Micromelia, Intrauterine growth retardation, Narrow mouth, Anteverted nares, Short nose, Natal tooth, Mixed hearing impairment, Increased bone mineral density, Low-set, posteriorly rotated ears.
How is it diagnosed?
To find out if someone has a diagnosis of Raine syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
