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Genetic and Rare Diseases Information Center (GARD)

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Nager acrofacial dysostosis


Other Names for this Disease

  • Acrofacial dysostosis 1, Nager type
  • AFD, Nager type
  • Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies
  • Nager acrofacial dysostosis syndrome
  • Nager syndrome
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Symptoms

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What are the signs and symptoms of Nager acrofacial dysostosis?

Nager acrofacial dysostosis is characterized by limb and facial anomalies.

Limb anomalies more commonly reported in people with Nager acrofacial dysostosis, include:[1][2]

  • Underdeveloped or absent radius
  • Underdeveloped or absent thumbs
  • Thumbs with two knuckles (triphalangeal thumbs)
  • Joined radius and ulnar bones (radioulnar synostosis)

Facial anomalies more commonly reported in people with Nager acrofacial dysostosis, include:[1][2] 

  • 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.[3]

Last updated: 4/9/2010

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.

Signs and Symptoms Approximate number of patients (when available)
Cheekbone underdevelopment 90%
Downslanted palpebral fissures 90%
Hearing impairment 90%
Micrognathia 90%
Neurological speech impairment 90%
Skeletal dysplasia 90%
Abnormal nasal morphology 50%
Aplasia/Hypoplasia of the eyebrow 50%
Aplasia/Hypoplasia of the radius 50%
Atresia of the external auditory canal 50%
Cleft eyelid 50%
Cleft palate 50%
Limitation of joint mobility 50%
Ptosis 50%
Radioulnar synostosis 50%
Respiratory insufficiency 50%
Wide mouth 50%
Low-set, posteriorly rotated ears 7.5%
Malformation of the heart and great vessels 7.5%
Non-midline cleft lip 7.5%
Phocomelia 7.5%
Renal hypoplasia/aplasia 7.5%
Triphalangeal thumb 7.5%
Abnormality of the cervical spine -
Absent radius -
Absent thumb -
Aganglionic megacolon -
Aplasia/Hypoplasia of the thumb -
Aqueductal stenosis -
Autosomal dominant inheritance -
Bicornuate uterus -
Broad hallux -
Cleft upper lip -
Conductive hearing impairment -
Delayed speech and language development -
Gastroschisis -
Hallux valgus -
Hip dislocation -
Hydrocephalus -
Hypoplasia of first ribs -
Hypoplasia of the epiglottis -
Hypoplasia of the radius -
Laryngeal hypoplasia -
Limited elbow extension -
Lower eyelid coloboma -
Low-set ears -
Malar flattening -
Microcephaly -
Oligodactyly (feet) -
Overlapping toe -
Polymicrogyria -
Posteriorly rotated ears -
Preauricular skin tag -
Premature birth -
Prominent nasal bridge -
Radial deviation of finger -
Scoliosis -
Short stature -
Short toe -
Sparse lower eyelashes -
Talipes equinovarus -
Tetralogy of Fallot -
Toe syndactyly -
Trismus -
Unilateral renal agenesis -
Urticaria -
Velopharyngeal insufficiency -

Last updated: 9/2/2014

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.


References
  1. 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.
  2. Opitz J. Acrofacial dysostosis 1, Nager type. Orphanet Encyclopedia. 2003; http://www.orpha.net/data/patho/GB/uk-nager.pdf. Accessed 2/25/2014.
  3. Wulfsberg EA. Nager syndrome. In: Winters R et al.,. NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2002;


Other Names for this Disease
  • Acrofacial dysostosis 1, Nager type
  • AFD, Nager type
  • Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies
  • Nager acrofacial dysostosis syndrome
  • Nager syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.