Feingold syndrome type 1. Oculodigitoesophagoduodenal Syndrome. Brunner-Winter syndrome
Incidence
Inheritance: Autosomal dominant rare genetic, congenital malformation syndrome. Prevalence is unknown; FS1 is likely rare. To date, 69 families with 116 affected individuals have been reported.
Clinical Characteristics
A rare genetic, congenital malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies (brachymesophanlangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs), mild learning deficit and short palpebral fissures. The two subtypes are clinically distinguished by the presence (type 1) or absence (type 2) gastrointestinal atresia. Feingold syndrome 1 is characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresias (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.
Precipitants
None. Patients have no crisis nor attacks events.
Provocation Tests
None.
Diagnostic Procedures
It is clinically suspected. The diagnosis of FS1 is established in a proband with suggestive clinical findings and a heterozygous pathogenic variant in MYCN identified by molecular genetic testing.