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Ear-patella-short stature syndrome
A rare microcephalic primordial dwarfism characterized by the association of bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).
ORPHA:2554Classification level: Disorder
A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Italiano (2006) Nederlands (2006) Polski ()
Disease review articles
- Review article
- English (2015) - Orphanet J Rare Dis
: produced/endorsed by FSMR(s)
Further information on this disease
Patient-centred resources for this disease
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Specialised Social Services
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