Deutsch
IllnessFeingold syndrome 1
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Feingold syndrome
ID
FS0270
Number of genes
1
Accredited laboratory test
Examined sequence length
1,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| MYCN | 1395 | NM_005378.6 | AD |
Informations about the disease
Clinical Comment
Malformation syndrome: microcephaly, short stature, numerous digital anomalies, 2 subtypes: FS type 1 + FS type 2. FS1 most common, FS2 only 3 patients (no gastrointestinal atresia + short palpebral fissures)
Synonyms
- Alias: Digital anomalies with short palpebral fissures + atresia of esophagus or duodenum (MYCN)
- Alias: Feingold syndrome 1 (MYCN)
- Alias: MODED syndrome (MYCN)
- Alias: Microcephaly-digital anomalies-normal intelligence syndrome (MYCN)
- Alias: Microcephaly-intellectual disability-tracheoesophageal fistula syndrome (MYCN)
- Alias: Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome (MYCN)
- Alias: Oculo-digito-esophago-duodenal syndrome; ODED syndrome (MYCN)
- DD: Feingold syndrome 2 (MIR17HG)
Heredity, heredity patterns etc.
- AD
ICD10 Code
Bioinformatics and clinical interpretation
No text defined