Lipodystrophy-intellectual disability-deafness syndrome

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ORPHA:50811OMIM:608154Q78.8
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Overview

Lipodystrophy-intellectual disability-deafness syndrome, also sometimes referred to as LIDS syndrome, is a very rare genetic condition that affects several parts of the body at the same time. The name describes its three main features: lipodystrophy (an abnormal loss or absence of body fat under the skin), intellectual disability (difficulty with learning and thinking), and deafness (hearing loss that is usually present from birth or early childhood). The condition affects the way fat is stored in the body, which can also lead to problems with metabolism, such as high blood sugar or abnormal cholesterol levels. The brain is also affected, leading to developmental delays and learning challenges that vary from mild to more significant. Hearing loss is typically sensorineural, meaning it comes from damage to the inner ear or the nerve pathways to the brain. There is currently no cure for this syndrome. Treatment focuses on managing each symptom separately. This may include hearing aids or cochlear implants for deafness, special education and therapy programs for intellectual disability, and dietary changes or medications to manage metabolic problems related to lipodystrophy. A team of different specialists is usually needed to provide the best care.

Also known as:

Key symptoms:

Abnormal loss of body fat under the skin (lipodystrophy)Intellectual disability or learning difficultiesHearing loss, usually present from birth or early childhoodDelayed development in infancy and childhoodHigh blood sugar (diabetes or insulin resistance)Abnormal cholesterol or fat levels in the bloodEnlarged liver (hepatomegaly)Short stature or slow growthMuscle weakness

Clinical phenotype terms (13)— hover any for plain English
Slender buildHP:0001533Slender long bones with narrow diaphysesHP:0004993Progeroid facial appearanceHP:0005328Generalized lipodystrophyHP:0009064Dense metaphyseal bandsHP:0100959
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Lipodystrophy-intellectual disability-deafness syndrome.

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No actively recruiting trials found for Lipodystrophy-intellectual disability-deafness syndrome at this time.

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No specialists are currently listed for Lipodystrophy-intellectual disability-deafness syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Lipodystrophy-intellectual disability-deafness syndrome.

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Community

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Caregiver Resources

NORD Caregiver Resources

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Family & Caregiver Grants

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Social Security Disability

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Questions for your doctor

Bring these to your next appointment

  • Q1.Which gene is thought to be causing this condition in my child, and has genetic testing confirmed the diagnosis?,What type of hearing loss does my child have, and would they benefit from hearing aids or a cochlear implant?,How often should we check blood sugar, cholesterol, and liver function, and what levels should concern us?,What dietary changes are recommended to help manage the metabolic problems?,What therapies — speech, occupational, physical — should my child start, and how soon?,Are there any clinical trials or research studies we should know about for this condition?,What signs or symptoms should prompt us to go to the emergency room?

Common questions about Lipodystrophy-intellectual disability-deafness syndrome

What is Lipodystrophy-intellectual disability-deafness syndrome?

Lipodystrophy-intellectual disability-deafness syndrome, also sometimes referred to as LIDS syndrome, is a very rare genetic condition that affects several parts of the body at the same time. The name describes its three main features: lipodystrophy (an abnormal loss or absence of body fat under the skin), intellectual disability (difficulty with learning and thinking), and deafness (hearing loss that is usually present from birth or early childhood). The condition affects the way fat is stored in the body, which can also lead to problems with metabolism, such as high blood sugar or abnormal

How is Lipodystrophy-intellectual disability-deafness syndrome inherited?

Lipodystrophy-intellectual disability-deafness syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Lipodystrophy-intellectual disability-deafness syndrome typically begin?

Typical onset of Lipodystrophy-intellectual disability-deafness syndrome is infantile. Age of onset can vary across affected individuals.