Nager Syndrome (Acrofacial Dysostosis) defined

Features: The facial characteristics include downward slanting palpebral fissures (eyelids), absence or underdeveloped lower jaw, malformed outer and middle ears (from mild to total absence), clefting of hard or soft palates, absence of lower eyelashes, and scalp hair extending on to cheek.

Upper limb defects include underdeveloped or missing thumbs and occasional absence of the radial limb. Other limb anomalies such as limitations of elbow extension may occur. Legs and toes may also be affected. Some internal anomalies exist including stomach or kidney reflux. The severity of the syndrome varies.

There are over 90 members with Nager Syndrome. Its inheritance pattern has not yet been determined, but is believed to be autosomal dominant, which means one parent may carry this dominant gene.

Miller Syndrome (Postaxial Acrofacial Dysostosis) defined

Features: The facial characteristics include downward slanting palpebral fissures (eyelids), cleft palate, recessed lower jaw, small cup shaped ears, and a broad nasal ridge.

Limb anomalies include shortened and bowed forearms, incompletely developed ulnar and radius bones, missing or webbed fingers and toes, and abnormal growth of the tibia and fibula bones (lower legs).

Occasional anomalies include heart defects, lung disease from chronic infection, extra nipples, stomach or kidney reflux, undescended testicles in males, dislocated hips, and difficult venous (vein) access.

The severity of this syndrome varies. There are 30 affected individuals of Miller Syndrome in the world. Its inheritance pattern is believed to be autosomal recessive, which means that each parent is a carrier of this recessive gene.

Links to best online information about the disorders

www.fnms.net is the international website of the Foundation for Nager and Miller Syndromes (FNMS), with information on the conditions as well as a lending library list, photo gallery, online newsletter and a message board.

Research information

FNMS supports the efforts of The Center for Craniofacial Development Disorders at Johns Hopkins University in Baltimore, Maryland.  They are working on mapping the genes that cause craniofacial malformation syndromes, including Nager and Miller Syndromes.  There is a Genetic Counselor involved with the project that will work with interested families during the information-gathering phase of the study.  Affected families interested in participating can email the project coordinator at ph@welch.jhu.edu.  If a person is interested in submitting blood samples for Nager or Miller syndromes mapping research, they are urged to contact Dr. Ethylin Wang Jabs by phone at (410) 955-4160 or by e-mail at ewjabs@jhmi.edu.

Support group aims

FNMS is an international support group dedicated to helping those affected by Nager & Miller Syndromes.  We serve as a clearing house of information and as a link for families and medical personnel seeking information, support, hope and advice.  We help families in the process of going from surviving to thriving.

Support group activities

FNMS sponsors a biannual Family Conference for member families.  This gives affected individuals and their families the opportunity to come together from all over the world and share their experiences and new adventures.  FNMS also offers scholarships to eligible member children to Camp About Face.  We offer a semi-annual newsletter to all member families, supporters and involved medical professionals.  We help families to find appropriate financial assistance when needed.

Support group newsletters

The two most recent FNMS Newsletters are available online at www.fnms.net.

All past editions of "All About Us" are available from the US office of the Foundation:

13210 SE 342nd Street
Auburn, WA  98092-8505, USA
Phone: 253-333-1483
Email: ddfnms@aol.com

New Zealand contacts for the Foundation

Maurice & Carla Perry
11B Acacia Place, Bell Block, New Plymouth
Phone: 06 755 1749
Email: nagermiller.info@nzord.org.nz