NFDR Syndrome is an extremely rare autsomal recesisve disorder characterized by profound intellectual deficit, short stature, renal agenesis, hyperestensible joints, facial dysmoprhism and an abnormal EEG in the absence of seizures. Dysmorphic features include abnormal ears, hypertelorism, ptosis, broad and bifid nasal tip, and a high arched palate.
Mégarbané (2001) reported two sisters born to a possibly consanguneous healthy couple. Both sisters presented with slanting palpebral fissures, hypertelorism, ptosis, a wide nasal bridge, a broad bifid nasal tip, a high-arched palate, minor anomalies of the extremities, and an abnormal EEG without seizures. Mégarbané (2001) surmised that this represented a novel MCA/MR syndrome.