Dubowitz syndrome
Dubowitz syndrome (DS) is a rare genetic disorder with a wide clinical spectrum which includes:
- intrauterine growth restriction (IUGR)
- postnatal growth restriction
- microcephaly
- moderate intellectual disability
- characteristic facial anomalies
- telecanthus
- epicanthic folds
- blepharophimosis
- ptosis
- broadening of the bridge and tip of the nose
- abnormal ears
- retrogenia
- high pitched hoarse voice
- eczema
- toe syndactyly
Pathology
Genetics
It is thought to carry an autosomal recessive inheritance.
Associations
- cleft lip + / - palate
- hypospadias
- cryptorchidism : in males
Etymology
It is named after V Dubowitz who first described the condition in 1965 .
Siehe auch:
Assoziationen und Differentialdiagnosen zu Dubowitz-Syndrom:
