Nager Syndrome

Nager Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Nager Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Acrofacial Dysostosis, Nager Type
  • AFD
  • Nager Acrofacial Dysostosis Syndrome
  • Split Hand Deformity-Mandibulofacial Dysostosis

Disorder Subdivisions

  • None

General Discussion

Nager Syndrome is a rare disorder that may or may not be genetically derived. Major symptoms may include underdevelopment of the cheek and jaw area of the face. Down-sloping of the opening of the eyes, a smaller than normal jaw, lack or absence of the lower eyelashes, lack of development of the internal and external ear with related hearing problems and cleft palate may also occur. There may be underdevelopment or absence of the thumb, shortened forearms and poor movement in the elbow. Breathing and feeding problems may be present in infants with this syndrome.

Symptoms

Nager Syndrome is characterized by underdevelopment of the bones of the cheek and jaw area of the face. The eyes may slant downward and there may also be an absence of eyelashes. A smaller than normal jaw, and internal and external ear deformities may also be present. Clefting of the soft and hard palate may occur as well as deformities of the thumbs and arms. Missing, overlapping or webbing of the toes may occur. Clubfeet, hip dislocation and underdeveloped ribs may occasionally be present. Some patients may have heart problems related to the syndrome. There may be hair growing on the sides of the face in an elongated sideburn effect. Feeding, breathing, hearing and speech problems need to be taken care of as soon as possible in order to aid in proper development of the child.



This syndrome is very closely related to Miller Syndrome and in some cases has also been misdiagnosed as Treacher Collins Syndrome.

Causes

The exact cause of Nager Syndrome is not known. However, scientists believe that it may be a genetic disorder inherited either through autosomal recessive or dominant inheritance.



Human traits, including the classic genetic diseases,are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.



In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

Affected Populations

Nager Syndrome is a very rare disorder that affects males and females in equal numbers. It is apparent at birth and may also be detected prenatally by ultrasound screening.

Standard Therapies

Treatment of Nager Syndrome may consist of surgery to insert breathing and feeding tubes in infants who are unable to breath or eat due to deformities of the palate or jaw. Surgery may be needed on the ears to aid in hearing in those with ear defects. There may be a need for multiple plastic surgeries to correct eye and jaw defects and cleft palate. Physical therapy often is necessary to improve use of hands and feet. Orthopedic surgery may also be necessary to try and correct deformities of the arms, hands, feet or toes. Speech therapy may be needed to aid in hearing and language development.



Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Scientists are studying various surgical methods to improve the appearance of patients with craniofacial and other birth defects affecting the head, eyes and jaw.



Clinical researchers and Johns Hopkins University School of Medicine are engaged in fundamental studies of the gene(s) responsible for Nager Syndrome. Patients with Nager syndrome willing to contribute blood for this study should contact:



Ethlyn Wang Jabs, MD

Director, Center for Craniofacial Development and Disorders

Institute of Genetic Medicine

Tel: 410-955-4160

e-mail : ewjabs@jhmi.edu



Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Jones KL. ed Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: W.B. Saunders Co: 1997:258-59.



REVIEW ATRICLES

Opitz C, Stoll C, Ring P. Nager syndrome. Problems and possibilities of therapy. J Orofac Orthop. 2000;61:226-36.



Vargervik K., Mandibular malformations: growth characteristics and management in hemifacial microsomia and Nager syndrome. Acta Odontol Scand. 1998;56:331-38.



Preis S, Raymakers-Buntinx I, Majewski F. et al., Acrofacial dysostosis of unknown type: nosology of the acrofacial dysostoses. Am J Med Genet. 1995;56:155-60.



Friedman RA, Wood E, Pranksy SM, et al., Nager acrofacial dysostosis: management of a difficult airway. Int J Pediatr Otorhinolaryngol. 1996;35:69-72.



JOURNAL ARTICLES

Denny AD, Talisman R, Hanson PR, et al. Mandibular distraction osteogenesis in very young patients to correct airway obstruction. Plast Reconstr Surg. 2001;108:302-11.



Delb W, Lipfert S, Henn W. Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome? Clin Dysmorphol. 2001;10:105-09.



Norris RA, Scott KK, Moore CS, et al. Human PRRX1 genes: cloning, expression, genomic localiation, and exclusion as disease genes for Nager syndrome. Mamm Genome 2000;11:1000-05.



Waggoner DJ, Ciske DJ, Dowton SB et al., Deletion of 1q in a patient with acrofacial dysostosis. Am J Med Genet. 1999;82:301-04.



Zori RT, Gray BA, Bent Weilliams A, et al., Preaxial acrofacial dysostosis (Nager Syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies. Am J Med Genet. 1993;46:379-83. Am J Med Genet. 1993;46:379-83.



FROM THE INTERNET

McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 154400; Last Update:5/12/1999.

Resources

Children's Craniofacial Association

13140 Coit Road

Suite 517

Dallas, TX 75240

USA

Tel: (214)570-9099

Fax: (214)570-8811

Tel: (800)535-3643

Email: contactCCA@ccakids.com

Internet: http://www.ccakids.com



FACES: The National Craniofacial Association

PO Box 11082

Chattanooga, TN 37401

Tel: (423)266-1632

Fax: (423)267-3124

Tel: (800)332-2373

Email: faces@faces-cranio.org

Internet: http://www.faces-cranio.org



Let's Face It

University of Michigan, School of Dentistry / Dentistry Library

1011 N. University

Ann Arbor, MI 48109-1078

USA

Tel: (360)676-7325

Email: faceit@umich.edu

Internet: http://www.dent.umich.edu/faceit



Foundation for Nager and Miller Syndromes

13210 SE 342nd Street

Auburn, WA 98092

USA

Fax: (253)288-7679

Tel: (800)507-3667

Email: dede@fnms.net

Internet: http://www.fnms.net



American Society for Deaf Children

800 Florida Avenue NE

2047

Washington, DC 20002-3695

Tel: (866)895-4206

Fax: (410)795-0965

Tel: (800)942-2732

Email: asdc@deafchildren.org

Internet: http://www.deafchildren.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Cleft Lip and Palate Foundation of Smiles

2044 Michael Ave SW

Wyoming, MI 49509

Tel: (616)329-1335

Email: Rachelmancuso09@comcast.net

Internet: http://www.cleftsmile.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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