Feingold Syndrome: Introduction

Feingold syndrome, also known as oculodigitoesophagoduodenal (ODED) syndrome, is a rare autosomal dominant genetic disorder characterized by digital anomalies, microcephaly, gastrointestinal atresia, and mild to moderate learning disabilities.

Key points:

• Inheritance: Autosomal dominant
• Prevalence: Rare, exact incidence unknown
• Primary genes involved: MYCN (Feingold syndrome 1) and MYCN2 (Feingold syndrome 2)

Clinical Features of Feingold Syndrome

Digital Anomalies:

• Brachymesophalangy (shortening of the middle phalanx) of 2nd and 5th fingers
• Syndactyly (fusion of digits), typically 2nd-3rd and 4th-5th toes
• Thumb hypoplasia
• Clinodactyly of 5th finger

Facial Features:

• Microcephaly
• Short palpebral fissures
• Broad nasal bridge
• Micrognathia

Gastrointestinal Abnormalities:

• Esophageal atresia (15-55% of cases)
• Duodenal atresia
• Anal atresia (less common)

Developmental and Neurological Features:

• Mild to moderate learning disabilities
• Speech delay
• Attention deficit hyperactivity disorder (ADHD)

Additional Features:

• Short stature
• Renal anomalies (e.g., horseshoe kidney)
• Cardiac defects (less common)
• Vertebral anomalies

Diagnosis of Feingold Syndrome

Diagnosis is based on clinical features, imaging studies, and genetic testing.

Clinical Diagnostic Criteria:

Diagnosis can be made when at least three of the following five major features are present:

1. Characteristic digital anomalies
2. Microcephaly
3. Esophageal or duodenal atresia
4. Learning disabilities or short stature
5. Autosomal dominant inheritance

Imaging Studies:

• Hand and foot X-rays to evaluate digital anomalies
• Upper GI series to detect esophageal or duodenal atresia
• Brain MRI to evaluate microcephaly and other neurological features
• Renal ultrasound to check for kidney anomalies

Genetic Testing:

• Sequence analysis of MYCN gene (Feingold syndrome 1)
• If negative, consider testing for MYCN2 gene (Feingold syndrome 2)
• Deletion/duplication analysis if sequencing is negative

Differential Diagnosis:

• VACTERL association
• Fanconi anemia
• Holt-Oram syndrome
• Townes-Brocks syndrome

Management of Feingold Syndrome

Management is multidisciplinary and focuses on addressing specific symptoms and improving quality of life.

Neonatal Period:

• Immediate evaluation and management of gastrointestinal atresia
• Feeding support and nutritional management

Surgical Interventions:

• Repair of esophageal or duodenal atresia
• Surgical correction of digital anomalies if functionally limiting

Developmental Support:

• Early intervention programs
• Special education services
• Speech and language therapy
• Occupational therapy for fine motor skill development

Growth Monitoring:

• Regular growth assessments
• Endocrinology referral if growth hormone deficiency is suspected

Neurological Management:

• Regular neurodevelopmental assessments
• Management of ADHD if present

Cardiac and Renal Surveillance:

• Echocardiogram to evaluate for cardiac defects
• Regular renal ultrasounds to monitor for kidney anomalies

Ongoing Care:

• Regular follow-up with multidisciplinary team
• Monitoring for scoliosis
• Dental care (may have dental anomalies)

Genetic Counseling:

• Discuss inheritance pattern and recurrence risk
• Offer testing for at-risk family members
• Prenatal diagnosis options for future pregnancies