Living with Holoprosencephaly-hypokinesia-congenital contractures syndrome
A rare condition seen before birth, with a brain that did not fully divide, reduced fetal movement, and stiff joints.
Understanding Holoprosencephaly-hypokinesia-congenital contractures syndrome
It involves holoprosencephaly, where the developing brain does not fully divide, and reduced movement of the baby (fetal hypokinesia). Other features include a small head, multiple joint contractures, and slow growth in the womb. It has not been described in the medical literature since 1988.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Holoprosencephaly
- Reduced fetal movement
- Small head (microcephaly)
- Multiple joint contractures
- Limited joint movement
- Low-set ears
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.
- 3Consider genetic testing
Changes in GPKOW are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations
- 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 the GPKOW gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: holoprosencephaly with fetal akinesia/hypokinesia sequence; holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome; lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome; morse-rawnsley-sargent syndrome
Patient organizations
- The Carter Centers for Brain Research in Holoprosencephaly and Related MalformationsHoloprosencephaly-hypokinesia-congenital contractures syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Holoprosencephaly-hypokinesia-congenital contractures syndrome.
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