Acrofacial Dysostosis, Cincinnati Type

Clinical Characteristics
Ocular Features: 

The periocular features are part of the general facial dysmorphism.  The lid fissures slant downward, and the orbits appear inferiorly displaced.  'Clefts' (colobomas?) of the lower eyelids and sometimes the upper may be evident.  The medial eyelashes were absent in one patient. 

Systemic Features: 

The extraocular features reported so far are based on only three patients and there is considerable variation.  The head is usually small and patients may be short in stature.  The zygomatic arches, the maxillae and the mandibles are hypoplastic as is the midface.  There may be anotia and severe conductive hearing loss.  The pinnae can be large and are sometimes low-set.  Inconsistent short limbs with hip dysplasia and femoral bowing have been reported.  Brachydactyly is also a feature.

Genetics

Heterozygous mutations in the POLR1A gene (2p11) seem to be responsible for this condition.

Treatment
Treatment Options: 

treatment is available for the overall condition but individual anomalies such as lid ‘clefts’ can be surgically repaired. Severe micrognathia may require tracheostomy at birth.

References
Article Title: 

References

Weaver KN, Watt KE, Hufnagel RB, Navajas Acedo J, Linscott LL, Sund KL, Bender PL, Konig R, Lourenco CM, Hehr U, Hopkin RJ, Lohmann DR, Trainor PA, Wieczorek D, Saal HM. Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. Am J Hum Genet. 2015 May 7;96(5):765-74.

PubMedID: 25913037