Nager acrofacial dysostosis
|Nager acrofacial dysostosis|
|Other names: Nager syndrome, mandibulofacial dysostosis with preaxial limb anomalies|
|Nager acrofacial dysostosis is inherited in an autosomal dominant manner.|
Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which 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 or stomach reflux, hammer toes, shortened soft palate, 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, and may be characterized by accessory tragi. Occasionally, affected individuals develop vertebral anomalies such as scoliosis.
The inheritance pattern is autosomal, but there are arguments as to whether it is autosomal dominant or autosomal recessive. Most cases tend to be sporadic. Nager syndrome shares many characteristics with five other craniofacial syndromes: Miller, Treacher Collins, Pierre Robin, Genee–Wiedemann and Franceschetti–Zwahlen–Klein.
Signs and symptoms
The clinical presentation of Nager acrofacial dysostosis is consistent with the following:
- Abnormal nasal morphology
- Cleft palate
- Joint stiffness
- Lower limb deformity
- Patent ductus arteriosus
- Prominent nasal bridge
- Talipes equinovarus
- Delayed speech
- Hearing impairment
- Tetralogy of Fallot
- Short toe
The treatment of this condition entails the following:
- Cleft palate surgery
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