What is Temple syndrome?
Temple syndrome is a rare genetic syndrome that presents with a variety of symptoms. These symptoms include growth delay, issues with feeding, motor development delay, and unique facial features.
The syndrome occurs in less than 1 in 1 million live births. The syndrome was only discovered fairly recently and research is still ongoing.
Also known as Uniparental disomy, maternal, chromosome 14
What gene changes cause Temple syndrome?
The syndrome is known as an imprinting disorder. It is caused by uniparental disomy to the genes on chromosome 14, which means that instead of having two copies, maternal genes are not working/present.
The syndrome is inherited in an autosomal dominant pattern or is the result of a de novo mutation and the first case in a family.
What are the main symptoms of Temple syndrome?
- A key symptom of the syndrome is delayed growth, occurring both prenatally and postnatally. This is often accompanied by feeding challenges during infancy, low muscle tone, and slower motor skill development. In certain cases, intellectual disability may also be present.
- Unique facial characteristics of the syndrome include a prominent forehead, a shore nose with a wide tip, downward turning corners of the mouth, a small jaw, and a high palate.
- Other symptoms include obesity, which presents in childhood, premature puberty, and bone anomalies that include other unique physical features such as small hands and feet.
Possible clinical traits/features:
Decreased testicular size, Cryptorchidism, Flexion contracture, Depressed nasal bridge, Feeding difficulties in infancy, Small for gestational age, Recurrent otitis media, Posteriorly rotated ears, Short foot, Hypertriglyceridemia, Hypercholesterolemia, Hydrocephalus, High palate, Delayed speech and language development, Relative macrocephaly, Frontal bossing, Prominent forehead, Clinodactyly, Short philtrum, Small hand, Scoliosis, Truncal obesity, Premature birth, Cleft palate, Wide nose, Bifid uvula, Anteverted nares, Maturity-onset diabetes of the young, Micrognathia, Muscular hypotonia, Joint hypermobility.
How is it diagnosed?
To find out if someone has a diagnosis of Temple 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.
