Acrofacial Dysostosis

From WikiGenetics

1 Name of Condition
2 Definition
3 Description, Signs and Symptoms
4 Inheritance
5 Diagnosis
6 Treatment and Management
7 Prognosis
8 Resources
9 References

[edit] Name of Condition

Acrofacial Dysostosis (AFD), commonly referred to as Nager Syndrome.

[edit] Definition

AFDs are congenital disorders known to cause craniofacial malformations and limb anomalies. Nager syndrome is a very rare congenital disorder that has only had about 90 cases recorded as of 2007. It has been linked to 5 similar conditions: Miller Syndrome, Pierre Robin Sequence, Genee-Wiedemann, Treacher Collins Syndrome, and Franceschetti-Zwahlen-Klein.

[edit] Description, Signs and Symptoms

This condition is characterized by:

underdevelopment of the cheeks and jaw
down-sloping of the eye opening
lack of lower eyelashes
shortened forearms and difficulty in elbow movement
hammer toes
underdevelopment of lack of a thumb
possible cleft palate
loss of hearing
underdevelopment of the internal and external ear
respiratory and feeding difficulties in affected infants

[edit] Inheritance

Pattern of inheritance is difficult to confirm as autosomal dominant or recessive since most of the cases are typically sporadic. It is also currently unknown whether a parent with Nager syndrome is capable of having surviving children.

[edit] Diagnosis

Diagnosis can be made with prenatal imaging techniques.

[edit] Treatment and Management

There is no current cure for this condition. However, surgical techniques are available and may be necessary to improve functional capabilities, particularly for patients with cleft palate in order to relieve some respiratory and feeding difficulties. Some common techniques are tracheostomies, which facilitate a proper and safe airway, and gastronomies, which assure necessary nutritional intake.

[edit] Prognosis

Patients with Nager Syndrome usually have normal intelligences and live productive lives. Early interventions on physical, educational, and social levels can improve a patient’s capabilities.