Living with Trigonocephaly-short stature-developmental delay syndrome
A very rare genetic condition with a triangle-shaped forehead, short stature, and developmental delay.
Understanding Trigonocephaly-short stature-developmental delay syndrome
The forehead is narrow and triangle-shaped, with a raised ridge down the middle. Other features can include differences in the face, hearing loss, brain, bone, heart, and kidney differences, hernia, and seizures. GARD says there have been no further descriptions in the medical literature since 1981.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Moderate intellectual disability
- Early closing of skull seams (craniosynostosis)
- Narrow forehead
- Slow growth after birth
- Seizures and heart or groin hernia differences in some people
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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 World Craniofacial Foundation 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
GARD says changes in genes (variants) cause this condition and that it is X-linked, which means the gene is on the X chromosome. It doesn't name a specific gene.
Also known as: say meyer syndrome; say-meyer syndrome; trigonocephaly with short stature and developmental delay; trigonocephaly, short stature and developmental delay; trigonocephaly, short stature, and retarded psychomotor development; trigonocephaly, short stature, developmental delay syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Trigonocephaly-short stature-developmental delay syndrome.
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