Living with Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
A rare genetic mitochondrial condition with slow growth, low muscle tone, vision problems, and speech delay.
Understanding Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Features include slow growth before birth, a small head, low muscle tone, vision impairment, delayed speech and language, and lactic acidosis (a buildup of lactic acid) with reduced activity of the cell's energy-making chain. Other features may include large red blood cells (macrocytic anemia), tremor, muscle wasting, poor coordination, and mild intellectual disability. It usually starts in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Delayed speech and language
- Delayed fine motor skills
- Macrocytic anemia
- Poor coordination (dysmetria)
- Mild intellectual disability
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 SFXN4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction
- 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 United Mitochondrial Disease Foundation and other patient organizations
- 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 SFXN4 gene cause this condition. GARD lists both autosomal recessive and mitochondrial inheritance.
Also known as: combined oxidative phosphorylation deficiency 18; combined oxidative phosphorylation deficiency caused by mutation in sfxn4; combined oxidative phosphorylation deficiency type 18; sfxn4 combined oxidative phosphorylation deficiency
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
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Perspectives from people navigating life with Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome.
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