What are symptoms of Nager syndrome?
Nager syndrome
- Children with Nager syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia ).
- People with Nager syndrome often have eyes that slant downward (downslanting palpebral fissures), no eyelashes , and a notch in the lower eyelids called an eyelid coloboma .
What is Acrofacial Dysostosis?
Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor ).
How is Nager syndrome treated?
Surgery may be required to correct abnormalities of the jaws, limbs, and eyes. Surgery and/or speech therapy may be necessary when cleft palate or cleft lip is present. Skeletal malformations such as rib abnormalities, limited range of motion of the elbows, and scoliosis may require surgical intervention.
Is skeletal dysplasia dominant or recessive?
The skeletal dysplasias are genetically heterogenous and can be inherited as autosomal dominant, autosomal recessive, X-linked recessive, and X-linked dominant disorders, and rarer genetic mechanisms of disease including chromosomal deletions/duplications, germline mosaicism, and uniparental disomy have been seen.
How is Nager syndrome diagnosed?
Diagnosis of Nager syndrome begins with a physical examination of your baby after birth. Your healthcare provider will look for physical characteristics of the condition and might order an X-ray to examine how your child’s bones formed in their face, hands and arms. Genetic testing may confirm the diagnosis.
What is Acrofacial vitiligo?
Acrofacial vitiligo is a clinical form of vitiligo characterized by macules in distal digits, periorificial-facial and ano-genital areas.
Is Ectrodactyly genetic?
Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder. Symptoms can vary greatly from one person to another.