Feingold syndrome type 2
Engelsk navn: Feingold syndrome type 2
Engelske synonym: Brachydactyly-short stature-microcephaly syndrome,Brunner-Winter syndrome type 2,FGLDS2,FS2,MMT type 2,Microcephaly-digital anomalies-normal intelligence syndrome type 2,Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2
Definisjon
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.
Fra Orphanet
ORPHA: 391646
Klassifiseringsnivå: Subtype of disorder
ICD-10: Q87.8
Mer informasjon
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