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Feingold syndrome type 2
Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.
ORPHA:391646Classification level: Subtype of disorder
- Brachydactyly-short stature-microcephaly syndrome
- Brunner-Winter syndrome type 2
- MMT type 2
- Microcephaly-digital anomalies-normal intelligence syndrome type 2
- Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.8
- OMIM: 614326
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
FS2 is extremely rare and has only been described in 3 patients to date.
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. This is the first example of a syndromic development deficit in humans that is caused by a miRNA gene.
FS2 is inherited in an autosomal dominant manner and genetic counseling is possible.