Living with Lathosterolosis
An extremely rare inherited condition that affects growth, development, the face, limbs, kidneys, and liver.
Understanding Lathosterolosis
People with lathosterolosis may have differences in facial features and birth differences, including in the limbs and kidneys. They may also have slow growth and weight gain, delayed development, and liver disease. It is noticed in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Unusually small head (microcephaly)
- Clouding of the eye lens (cataract)
- Drooping upper eyelid (ptosis)
- Enlarged liver (hepatomegaly)
- Extra fingers or toes (polydactyly)
- Calcium deposits in the brain
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in SC5D 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); Eye disease specialists (ophthalmologists); 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 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
Lathosterolosis is caused by changes in the SC5D gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: sc5d deficiency; sterol c5 desaturase deficiency; sterol c5-desaturase deficiency
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 Lathosterolosis.
Explore research for Lathosterolosis
Explore actively recruiting Lathosterolosis studies with HealthSpark.
Find actively recruiting studies for Lathosterolosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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