About Miller Syndrome

Miller Syndrome, (postaxial acrofacial dysostosis) is an extremely rare genetic condition that involves multiple physical anomalies.

The facial characteristics include downward slanting palpebral fissures (eyelids), the absence of a portion of the lower eyelid and or eyelashes, cleft palate, recessed lower jaw, small cup shaped ears, and a broad nasal ridge. Mild to severe hearing loss is usually noted and therefore repeated BAER hearing tests may be indicated to diagnose this hearing loss.

The hallmark of Miller Syndrome is the absence or malformation of the fifth digits, often involving both the hands and the feet. Limb anomalies include shortened and bowed forearms, incompletely developed ulnar and radius bones, missing or webbed fingers and toes, as well as abnormal growth of the tibia and fibula bones (lower legs).

Occasional anomalies include heart defects including but not limited to ventricular septal defects. Additionally, lung disease from chronic infection, extra nipples, upper g.i. reflux and or kidney reflux can be present. Males often if not always have undescended testicles while females may have uterine anomalies. Easily dislocated hips can be another issue faced by people with Miller Syndrome. Furthermore most affected children suffer with difficult venous (vein) access. Some mothers have been shown to have extra amniotic fluid during pregnancy, when carrying a child with Miller Syndrome.

Medical intervention is usually required at birth to aid in breathing due to the narrow airway, recessed lower jaws. Clefting of the hard and or soft palate difficulty breathing and swallowing usually means that feeding will be an issue.

The severity of this syndrome varies widely. There have been fewer than 75 documented cases of Miller Syndrome world wide.

The inheritance pattern is believed to be autosomal recessive, which means that each parent is a carrier of this recessive gene.

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