MacDermot-Patton-Williams Syndrome

A rare genetic disorder characterized by distinctive facial features, developmental delay, and multiple congenital anomalies. First described in 1987 by MacDermot, Patton, and Williams.

Key Points

• Inheritance: Autosomal dominant
• Gene: PIGA gene mutations
• Prevalence: Extremely rare, fewer than 50 cases reported
• Age of Onset: Present at birth

Characteristic Features

Craniofacial

• Broad forehead
• Hypertelorism
• Downslanting palpebral fissures
• Depressed nasal bridge
• Low-set ears
• Micrognathia

Neurological

• Global developmental delay
• Intellectual disability (moderate to severe)
• Hypotonia
• Seizures (in 80% of cases)
• Brain malformations

Skeletal

• Short stature
• Scoliosis
• Joint hypermobility
• Digital anomalies

Other Systems

• Congenital heart defects (50% of cases)
• Renal anomalies
• Gastrointestinal problems
• Visual impairments

Diagnostic Criteria

Clinical Assessment

• Detailed physical examination
• Family history
• Developmental assessment

Genetic Testing

• Next-generation sequencing
• PIGA gene analysis
• Whole exome sequencing in complex cases

Imaging Studies

• Brain MRI
• Echocardiogram
• Renal ultrasound
• Skeletal survey

Differential Diagnosis

• Smith-Lemli-Opitz syndrome
• Cornelia de Lange syndrome
• CHARGE syndrome

Treatment Approach

Multidisciplinary Care Team

• Pediatrician
• Clinical geneticist
• Neurologist
• Developmental specialist
• Physical therapist
• Occupational therapist
• Speech therapist

Interventions

• Early intervention programs
• Anticonvulsant therapy for seizures
• Physical therapy for hypotonia
• Occupational therapy for daily living skills
• Speech and language therapy
• Cardiac monitoring and management
• Regular ophthalmological assessment

Preventive Care

• Regular developmental assessments
• Growth monitoring
• Immunizations as per schedule
• Dental care

Long-term Outlook

• Variable prognosis depending on severity
• Life expectancy may be reduced in severe cases
• Quality of life depends on early intervention
• Continuous medical support required

Monitoring

• Regular follow-up with specialists
• Annual comprehensive evaluations
• Monitoring for complications
• Family support and genetic counseling