Autoszomális domináns
Caused by a change in one copy of MYCN, a growth regulator important in embryonic development. It is often inherited from a parent, and severity varies among affected individuals.
Tünetek és jelek
Microcephaly and short middle bones of the fingers (especially the second and fifth), curved fifth fingers and fused second-third or fourth-fifth toes are typical. Some babies are born with oesophageal or duodenal atresia. Short stature and mild learning difficulties occur in some. Less often there are heart or kidney anomalies, or hearing loss.
Mit változtat a diagnózis
Surgery may be needed at birth for digestive tract atresia, with assessment of the heart, kidneys and hearing and developmental support. Each child of an affected person has a 1 in 2 chance of inheriting the change, so genetic counselling and testing of relatives, including parents, are recommended.
Vizsgált gének
Más néven
Brunner-Winter syndrome type 1; digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1; digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum; digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum type 1; Feingold syndrome 1; Feingold syndrome caused by mutation in MYCN; FGLDS1; FS1; microcephaly, mental retardation, and tracheoesophageal fistula syndrome; microcephaly-digital anomalies-normal intelligence syndrome type 1; microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1; microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1; MMT type 1; MODED syndrome type 1; MYCN Feingold syndrome; oculo-digito-esophageal-duodenal syndrome type 1; ODED syndrome type 1
