Overview
Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome (also sometimes referred to as Filippi syndrome or craniodigital syndrome) is an extremely rare genetic condition that was historically described as a distinct entity but has since been reclassified (marked as 'obsolete' in medical databases), meaning it may now be considered part of another recognized condition or has been redefined. The syndrome was originally characterized by a combination of intellectual disability (difficulty with learning and thinking skills), microcephaly (an unusually small head size), abnormalities of the fingers and toes (phalangeal abnormalities such as fused fingers, known as syndactyly, or short fingers), and distinctive facial features. Facial features that were described include a broad nasal bridge, thin upper lip, and a high forehead. Because this condition is now considered obsolete as a standalone diagnosis, patients who were previously given this label may have been reclassified under a more specific genetic diagnosis as medical knowledge has advanced. There is no specific cure for this condition. Treatment has traditionally been supportive and symptom-based, focusing on developmental therapies, educational support, and surgical correction of hand or foot abnormalities when needed. Families affected by this condition should work closely with a clinical geneticist to determine whether a more precise modern diagnosis applies.
Key symptoms:
Intellectual disability or learning difficultiesUnusually small head size (microcephaly)Fused fingers or toes (syndactyly)Short fingers or toesDistinctive facial featuresBroad nasal bridgeThin upper lipHigh foreheadShort stature or growth delaysSpeech and language delaysLow muscle toneWidely spaced eyes
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome.
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 OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities 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.Has this diagnosis been updated or reclassified, and does a more specific genetic diagnosis apply to my child?,What genetic testing should be done to confirm the exact cause?,What therapies and early intervention services do you recommend?,Would surgery be helpful for the finger or toe abnormalities?,What is the expected developmental outlook for my child?,Are there any clinical trials or research studies we should consider?,Should other family members be tested for this genetic condition?
Common questions about OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome
What is OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome?
Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome (also sometimes referred to as Filippi syndrome or craniodigital syndrome) is an extremely rare genetic condition that was historically described as a distinct entity but has since been reclassified (marked as 'obsolete' in medical databases), meaning it may now be considered part of another recognized condition or has been redefined. The syndrome was originally characterized by a combination of intellectual disability (difficulty with learning and thinking skills), microcephaly (an unusually small head size), abnorm
How is OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome inherited?
OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome typically begin?
Typical onset of OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome is neonatal. Age of onset can vary across affected individuals.