Living with Pterygium colli-intellectual disability-digital anomalies syndrome
A rare syndrome present from birth with a webbed neck, differences in the thumbs, distinct facial features, and intellectual disability.
Understanding Pterygium colli-intellectual disability-digital anomalies syndrome
Hand differences include small thumbs set close to the wrist, widened finger joints, and broad fingertip bones. Facial features can include a short, broad skull, folds at the inner eye corners, arched eyebrows, drooping eyelids, wide-set eyes, and low-set ears. Intellectual disability and low muscle tone are also listed.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Webbed neck (pterygium colli)
- Thumbs set close to the wrist
- Widened finger joints
- Intellectual disability
- Low muscle tone (hypotonia)
- Wide-set eyes and drooping eyelids
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 and genetic 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)
- 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 it is inherited in either an X-linked dominant or autosomal dominant pattern. It doesn't name a gene yet.
Also known as: khalifa graham syndrome; khalifa-graham syndrome; pterygium colli and impaired intellectual development with facial and digital anomalies; pterygium colli with intellectual disability and digital anomaly syndrome
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 Pterygium colli-intellectual disability-digital anomalies syndrome.
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