Maxillo-nasal dysplasia (Binder phenotype) is a rare craniofacial malformation.
Features of the Binder phenotype:
(1) midfacial hypoplasia (flat and underdeveloped anterior maxilla)
(2) hypoplasia of the nasal pyramid (verticalized nasal bones with shortened nose, absent nasal eminence, and flat nasal bridge)
(3) underdeveloped upper jaw with relative protrusion of the lower jaw and reverse overbite
(4) variable absence of frontal sinus
Associated findings may include:
(1) respiratory distress
(2) feeding difficulties
Conditions associated with Binder phenotype:
(1) chondrodysplasia punctata (brachytelephalangic chondrodysplasia punctata) associated with a disorder of vitamin K
(1a) warfarin/coumadin embryopathy
(1b) vitamin K deficiency embryopathy
(1c) deficiency of epoxide reductase
(2) maternal autoimmune disorder
(3) trisomy (21, 18, other)
(4) Keutel syndrome
(5) infantile sialic acid storage disease
(6) Xp22.3 deletion
(7) Stickler syndrome
(8) Robinow syndrome
