Living with Bird headed-dwarfism, Montreal type
An extremely rare genetic syndrome with very short stature, a small head, and distinct face and skin features.
Understanding Bird headed-dwarfism, Montreal type
Features include a small head, narrow face with flat cheeks, drooping eyelids, a prominent nose, low-set ears, a high-arched or cleft palate, and a small jaw. Other signs are early graying and hair loss, dry, wrinkled skin on the palms, and varying degrees of intellectual disability. No new reports have appeared since 1970.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very short stature
- Small head (microcephaly)
- Narrow face and beaked nose
- Small lower jaw (micrognathia)
- Drooping upper eyelid (ptosis)
- Intellectual disability
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
Changes in genes cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: bird-headed dwarfism montreal type; bird-headed dwarfism with features of premature senility; bird-headed dwarfism, montreal type; microcephalic primordial dwarfism montreal type; microcephalic primordial dwarfism, montreal type; premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms
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 Bird headed-dwarfism, Montreal type.
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