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Acrofacial dysostosis, Rodríguez type
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with olygodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.
ORPHA:1788Classification level: Disorder
A summary on this disease is available in Deutsch (2004) Italiano (2004) Español (2020) Français (2020) Nederlands (2020)
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