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A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.
ORPHA:978Classification level: Disorder
A summary on this disease is available in Deutsch (2006) Español (2016) Français (2016) Nederlands (2016)
Disease review articles
- Clinical genetics review
- English (2021) - GeneReviews
: produced/endorsed by FSMR(s)
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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