Living with Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
A rare syndrome with a small head, heart defects, differences in the face and thumbs, slow growth, and developmental delay.
Understanding Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
It causes slow growth that starts before birth, which can mean low birth weight and short stature. People also have low muscle tone, developmental delay, and intellectual disability. Features include certain facial differences, heart malformations such as tetralogy of Fallot, and small thumbs. Signs are seen in the newborn period or infancy.
Signs & symptoms
GARD lists these among the less common symptoms; its summary also describes the features above:
- Smaller-than-average head size (microcephaly)
- Underdeveloped corpus callosum (the bridge between brain halves)
- Eyes set unusually close together
- Absent anus
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, genetic specialists and heart and blood vessel 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); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- 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 syndrome, and it is inherited in an autosomal recessive way. This means a child inherits a changed copy of the gene from each parent.
Also known as: hadziselimovic syndrome; microcephalus facio-cardio-skeletal syndrome hadziselimovic type; microcephaly faciocardioskeletal syndrome; microcephaly-faciocardioskeletal 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 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type.
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