Feingold Syndrome

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:

Characteristic digital anomalies
Microcephaly
Esophageal or duodenal atresia
Learning disabilities or short stature
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