Living with Lipodystrophy-intellectual disability-deafness syndrome
An extremely rare inherited condition with loss of body fat, hearing loss, intellectual disability, and thin bones.
Understanding Lipodystrophy-intellectual disability-deafness syndrome
Babies are born small, and hearing loss from inner-ear or nerve changes develops in childhood and gets worse. People have intellectual disability, thin bones, and delayed bone maturation. Bone changes are seen on X-rays.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of body fat from birth (generalized lipodystrophy)
- Hearing loss
- Intellectual disability
- Global developmental delay
- Thin bones (osteopenia)
- Slow weight gain (failure to thrive)
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 bone and joint specialists, brain and nervous system specialists, ear, nose, and throat 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); 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 Children's Skin Disease Foundation
- 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
An autosomal recessive pattern has been suggested, which means a child would inherit a changed copy of a gene from each parent. GARD does not name a gene.
Also known as: lipodystrophy-intellectual disability-hearing loss syndrome; rajab-spranger syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Lipodystrophy-intellectual disability-deafness syndrome.
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