Feingold syndrome type 2. FS2. Brunner-Winter syndrome type 2.
Incidence
Feingold syndrome type 2 (FS2) is extremely rare with less than 20 patients described in the literature to date. FS2 is inherited in an autosomal dominant manner; however, most cases arise de novo. Prevalence: <1 / 1 000 000. Inheritance: Autosomal dominant.
Clinical Characteristics
A rare, genetic congenital malformation syndrome characterized by microcephaly, short stature, digital anomalies (brachymesophalangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs) and mild intellectual disabilities but that lacks the manifestations of gastrointestinal atresia. FS2 patients present with microcephaly, brachydactyly, brachymesophalangy of the second and fifth fingers, hypoplastic thumbs and toe syndactyly as seen in FS1. Mild intellectual disability is also noted. Unlike FS1, patients with FS2 lack any form of gastrointestinal atresia and they do not display short palpebral fissures. FS2 is thought to be caused by a hemizygous deletion in the MIR17HG gene on chromosome 13q31.3. Prognosis depends on congenital malformations (especially cardiac and renal anomalies) present. Physicians caring for patients with FGLDS2 should be aware that problems with mood, memory, and sleep may be features of the disorder.
Precipitants
None
Provocation Tests
None.
Diagnostic Procedures
Diagnosis is suspected on clinical presentation and can be confirmed by high-resolution CGH (comparative genomic hybridization) arrays. Prenatal testing is possible in FS2 families with a known MIR17HG mutation or deletion