Living with Temple syndrome
A rare genetic condition with feeding trouble, slow growth, low muscle tone, and early puberty.
Understanding Temple syndrome
Babies and children may have feeding trouble, growth delays, and low muscle tone. People can have mild intellectual disability and reach milestones like crawling or walking later. Facial features may include a broad forehead, a short nose, downturned mouth corners, and a small jaw. Children may gain weight easily, start puberty early, and have small hands and feet.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Feeding difficulties in infancy
- Low muscle tone
- Slow growth and short stature
- Delayed speech and motor skills
- Early puberty
- Small hands and feet
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Chromosome Disorder Outreach and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (variants) cause this condition. It is autosomal dominant, meaning one changed copy of a gene can cause it. GARD doesn't list which gene.
Also known as: maternal uniparental disomy chromosome 14 syndrome; maternal uniparental disomy, chromosome 14; maternal upd14; Motor developmental delay due to 14q32.2 paternally expressed gene defect; mupd14 syndrome
Patient organizations
- Chromosome Disorder OutreachTemple syndrome · United States
- The MAGIC FoundationTemple syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Temple syndrome.
Explore research for Temple syndrome
Explore actively recruiting Temple syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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