Frontometaphyseal Dysplasia (FMD)

Frontometaphyseal dysplasia (FMD) is a member of the otopalatodigital spectrum disorders which include Melnick- Needles syndrome, otopalatodigital syndrome type I, and otopalatodigital syndrome type II. This congenital condition’s distinguishing symptoms include skull configuration (like a soldier’s helmet), joint deformities which restrain certain movements, and a Mephistophelian facial appearance (due to the overgrowth of the brow ridges). Other symptoms include bowed limbs, poor muscle growth, scoliosis, hand deformities, protruding brow ridges, very small chin, misaligned or missing teeth, hearing loss, breathing problems, heart defects, and urinary problems. Like other otopalatodigital spectrum disorders, males with FMD present with more severe symptoms than their female counterparts.

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