Living with Trigonocephaly-bifid nose-acral anomalies syndrome
A rare condition present at birth that affects the shape of the head and face, and the hands and feet.
Understanding Trigonocephaly-bifid nose-acral anomalies syndrome
Features include a narrow forehead, upward-slanting eyes, a wide nose with a slightly split tip, a wide mouth with a thin upper lip, and a small jaw. Hands and feet show broad thumbs, large toes, and bulbous fingertips with short nails. People are often shorter than average and may have weak muscles and trouble with movement and learning.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but the summary describes these features:
- Narrow forehead (trigonocephaly)
- Wide nose with a slightly split tip
- Small jaw
- Broad thumbs and large toes
- Short stature
- Weak muscles and learning problems
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- 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 rare disease patient organizations for support
- 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, but it doesn't name a specific gene.
Also known as: trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Trigonocephaly-bifid nose-acral anomalies syndrome.
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