Nager acrofacial dysostosis
- Acrofacial dysostosis 1, Nager type
- AFD, Nager type
- Mandibulofacial dysostosis with preaxial limb anomalies
- Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies
Limb anomalies more commonly reported in people with Nager acrofacial dysostosis, include:
- Underdeveloped or absent radius
- Underdeveloped or absent thumbs
- Thumbs with two knuckles (triphalangeal thumbs)
- Joined radius and bones (radioulnar synostosis)
- Underdeveloped jaw (micrognathia)
- Underdeveloped cheekbones
- Downward slanting eyes
- Reduced number of eyelashes
- Small missing segment of the lower eyelid (eyelid coloboma)
- Lack of development of the internal and/or external ear
- Cleft palate
Complications of Nager acrofacial dysostosis may include hearing problems due to abnormal internal and/or external ear development, and breathing and feeding difficulties in infancy due to micrognathia and cleft palate.
The Human Phenotype Ontology provides the following list of signs and symptoms for Nager acrofacial dysostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- O'Neill MJF. ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1. Online Mendelian Inheritance in Man. October 8, 2013; http://omim.org/entry/154400. Accessed 2/25/2014.
- Opitz J. Acrofacial dysostosis 1, Nager type. Orphanet Encyclopedia. 2003; http://www.orpha.net/data/patho/GB/uk-nager.pdf. Accessed 2/25/2014.
- Wulfsberg EA. Nager syndrome. In: Winters R et al.,. NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2002;