Acrofacial Dysostosis (Nager Type)

Definition

Definition of Acrofacial Dysostosis (Nager Type)
Acrofacial dysostosis is a congenital anomaly syndrome that may be characterized by accessory tragi.

Nager Syndrome displays several or all of the following characteristics: underdevelopment of the cheek and jaw area, down-sloping of the opening of the eyes, lack or absence of the lower eyelashes, kidney and/or stomach reflux, hammer toes, shortened soft palate, petite, lack of development of the internal and external ear, possible cleft palate, underdevelopment or absence of the thumb, hearing loss (see hearing loss with craniofacial syndromes) and shortened forearms, as well as poor movement in the elbow.

Symptoms

Symptoms of Acrofacial Dysostosis (Nager Type)

1. Conductive deafness
2. Speech articulation difficulty
3. Underdeveloped cheekbone
4. Down-slanting opening between eyelids
5. High nose bridge
6. Small lower jaw
7. Partial absence of lower eyelashes
8. Total absence of lower eyelashes
9. Low-set ears
10. Backwards rotated ears
11. Skin tag in front of ears
12. Absent external ear canal
13. Cleft palate
14. Underdeveloped thumb
15. Absence of thumb
16. Absence of radius bone of forearm
17. Fusion of forearm bones
18. Limited elbow extension
19. Short forearms

Causes

Causes of Acrofacial Dysostosis (Nager Type)

1. Head conditions
2. Ear and hearing conditions
3. Congenital conditions - physical defects
4. Congenital conditions
5. Hand conditions
6. Upper limb conditions

Diagnosis

Diagnosis of Acrofacial Dysostosis (Nager Type)
These home medical tests may be relevant to Acrofacial dysostosis, Nager type:

1. Ear Infections: Home Testing:
2. Home Ear Infection Testing
3. Home Ear Tests
4. Home Hearing Testing

Prognosis

Prognosis of Acrofacial Dysostosis (Nager Type)
Neonates with Nager syndrome may present with acute upper airway obstruction due to severe micrognathia.

Treatment

Treatment of Acrofacial Dysostosis (Nager Type)
The treatment is totally dependent on what symptoms manifest. If the patient suffers from speech retardation, then it is a speech therapist that could help the patient. Physicians who specialize in ear problems can also help. They may not totally cure the condition but they can help in managing the symptoms.

Prevention

Prevention of Acrofacial Dysostosis (Nager Type)
Early prenatal recognition of the syndrome is important to provide parents with the option of pregnancy termination, and in case of pregnancy continuation, appropriate management by an experienced team of neonatologists is mandatory to ensure neonatal survival.