Nager syndrome

A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.

Blepharophimosis

A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.


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PMID (PMCID)
15266620
 MIXED_SAMPLE
Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome.
Kennedy SJ, Teebi AS.
Am J Med Genet A. 2004;129A(1):73-6.
Clinical manifestations which differentiate their condition from Nager syndrome include: microcephaly, cleft lip and palate, a peculiar beaked nose, blepharophimosis, microtia, symmetrical involvement of the thumbs, and great toes and developmental delay.