Overview
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: leukomelanoderma refers to unusual patches of light and dark skin coloring, infantilism means delayed physical and sexual development, intellectual disability affects learning and thinking abilities, hypodontia means some teeth are missing or fail to develop, and hypotrichosis means the hair is unusually thin or sparse. This syndrome falls under a group of conditions known as ectodermal dysplasias, which affect structures that develop from the outer layer of the embryo, including skin, hair, teeth, and nails. Children with this condition may show signs from early life, including unusual skin pigmentation patterns, slow growth, and developmental delays. As they grow, the missing teeth and thin hair become more noticeable, and intellectual disability may range from mild to more significant. Because this syndrome is so rare, with very few cases described in the medical literature, there is no specific cure or targeted treatment. Management focuses on addressing each symptom individually, such as dental care for missing teeth, educational support for learning difficulties, and dermatological care for skin changes. A team of specialists working together provides the best approach to care.
Also known as:
Key symptoms:
Patches of light and dark skin coloringThin or sparse hair on the scalp and bodyMissing teeth or teeth that never developIntellectual disability or learning difficultiesDelayed growth and short statureDelayed puberty or underdeveloped sexual characteristicsAbnormal skin texture or drynessDelayed developmental milestonesPossible nail abnormalitiesChildlike body proportions persisting into later years
Clinical phenotype terms (16)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific tests can help confirm this diagnosis in my child?,Should we pursue genetic testing such as whole exome sequencing?,What specialists should be part of my child's care team?,Are there hormone treatments that could help with growth or puberty delays?,What dental options are available for missing teeth at my child's age?,What educational supports or therapies would benefit my child's development?,What is the chance of having another child with the same condition?
Common questions about Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
What is Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome?
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: leukomelanoderma refers to unusual patches of light and dark skin coloring, infantilism means delayed physical and sexual development, intellectual disability affects learning and thinking abilities, hypodontia means some teeth are missing or fail to develop, and hypotrichosis means the hair is unusually thin or sparse. This syndrome falls under a group of conditions known as ectodermal dysplasias
How is Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome inherited?
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome typically begin?
Typical onset of Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is infantile. Age of onset can vary across affected individuals.
Which specialists treat Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome?
1 specialists and care centers treating Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.