Living with Holoprosencephaly-postaxial polydactyly syndrome
A rare condition seen before or at birth, with a brain that did not fully divide, facial differences, and extra fingers.
Understanding Holoprosencephaly-postaxial polydactyly syndrome
It involves holoprosencephaly, where the developing brain does not fully divide into two halves. It also includes marked facial differences, an extra finger on the outer side of the hand (postaxial polydactyly), and other birth differences. It looks like trisomy 13, but chromosomes are normal. It may be seen during pregnancy or in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Holoprosencephaly
- Small skull (microcephaly)
- Cleft lip or palate
- Extra little finger
- Small or abnormally close eyes
- Low muscle tone (hypotonia)
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 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 genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: holoprosencephaly and postaxial polydactyly syndrome; pseudo-trisomy 13 syndrome; pseudotrisomy 13 syndrome
Patient organizations
- The Carter Centers for Brain Research in Holoprosencephaly and Related MalformationsHoloprosencephaly-postaxial polydactyly syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Holoprosencephaly-postaxial polydactyly syndrome.
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