Living with Chromosome 5q12 deletion syndrome
A rare condition, also called PDE4D haploinsufficiency syndrome, with developmental delay, low body weight, and long arms, fingers, and toes.
Understanding Chromosome 5q12 deletion syndrome
Features include developmental delay, intellectual disability, low body mass index, long arms, fingers, and toes, a prominent nose, and a small chin. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay
- Intellectual disability
- Low body weight for height
- Long arms, fingers, and toes
- Prominent nose and small chin
- Bone age that is more advanced than expected
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 PDE4D 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 Chromosome Disorder Outreach
- 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
GARD says changes in the PDE4D gene cause this condition (the gene is missing one working copy). It is autosomal dominant, so one changed copy can be enough.
Also known as: pde4d haploinsufficiency syndrome
Patient organizations
- Chromosome Disorder OutreachChromosome 5q12 deletion syndrome · United States
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