Pierre Robin syndrome-faciodigital anomaly syndrome

Pierre Robin syndrome-faciodigital anomaly syndrome is a rare condition that features a combination of the Pierre Robin sequence and distinct facial and digital differences. People with this condition have features of Pierre Robin sequence, which include a small lower jaw (retrognathia), an opening in the roof of the mouth (cleft palate), and difficulties related to the position of the tongue (glossoptosis). In addition, they may show unique facial characteristics such as a high forehead with prominent frontal bone (frontal bossing) and unusual hand features like tapering fingers, nails that curve more than usual, a slight bending (clinodactyly) of the fifth finger, short tips of the fingers, as well as finger-like thumbs and joints in the hands that may move out of place easily. Despite these physical differences, growth and mental development have been noted as normal in people with this syndrome. This information helps in understanding that while the syndrome involves noticeable physical features, overall development in terms of learning and growth is typically not affected.

The common features of this syndrome include a smaller than normal lower jaw, an underdeveloped palate, and issues with tongue placement. People may also have a high forehead with a prominent front, along with various hand and nail differences such as tapering fingers, overly curved nails, a slight inward curve of the little fingers, shortened tips of the fingers, and joints of the thumb that can easily shift out of place.

Information about causes is currently limited for this condition.

Information about treatment is currently limited for this condition.

People with this syndrome typically show normal growth and mental development. While the physical differences are noticeable, overall development and quality of life are generally not affected by these features.

Information about research is currently limited for this condition.