Living with Microcephalic primordial dwarfism, Toriello type
A very rare inherited condition with slow growth before birth, a small head, cataracts, and immune differences.
Understanding Microcephalic primordial dwarfism, Toriello type
Other features include immune problems, delayed bone growth, and weak tooth enamel. It has been described in two siblings. It starts in pregnancy and the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth before birth
- Severe short stature
- Small head (microcephaly)
- Cataracts
- Intellectual disability
- Repeated respiratory infections
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, eye disease 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); 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 (also called variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. GARD does not name a gene.
Also known as: microcephalic primordial dwarfism and cataracts; microcephalic primordial dwarfism of toriello type; microcephalic primordial dwarfism toriello type
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 Microcephalic primordial dwarfism, Toriello type.
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