Feingold syndrome
Engelsk navn: Feingold syndrome
Engelske synonym: Brunner-Winter syndrome,Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum,FGLDS,FS,MMT,MODED syndrome,Microcephaly-digital anomalies-normal intelligence syndrome,Microcephaly-intellectual disability-tracheoesophageal fistula syndrome,Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome,ODED syndrome,Oculo-digito-esophageal-duodenal syndrome
Definisjon
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.
Fra Orphanet
ORPHA: 1305
Klassifiseringsnivå: Disorder
ICD-10: Q87.8
