Iridogoniodysgenesis and Skeletal Anomalies

Clinical Characteristics
Ocular Features: 

Megalocornea, congenital glaucoma, a concave iris with stromal atrophy and corectopia, and deep anterior chambers are typical ocular features.  High myopia has been reported and retinal detachments have been observed.  Glaucoma control can be difficult to achieve and there is a significant risk of cataracts and phthisis bulbi following surgery.  Posterior embryotoxon has not been observed.

Systemic Features: 

Facial features seem to be consistent.  The forehead is wide, the nose appears broad with a large nasal tip and broad nares although the bridge appears narrow.  The philtrum is long and wide.  The ears may appear large and the neck is short.  The thorax is abnormally wide and the nipples are widely spaced and umbilicated.  The long bones are slender with thin cortices and wide metaphyses.  There is generalized osteopenia.  Vertebral bodies are cuboid-shaped with narrow vertebral canals and enlarged apophyses

Genetics

Two non-consanguineous families each with 3 sibs have been reported suggesting autosomal recessive inheritance.  Nothing is known about the mutation or its locus.

The ocular features may resemble Rieger or Axenfeld anomaly but these are inherited in autosomal dominant patterns and the skeletal features are dissimilar.       

Treatment
Treatment Options: 

Vigorous treatment of glaucoma is indicated but successful control, even with surgery, is difficult to achieve.

References
Article Title: 

References

Rodriguez-Rojas LX, Garcia-Cruz D, Mendoza-Topete R, Barba LB, Barrios MT, Patino-Garcia B, Lopez-Cardona MG, Nuno-Arana I, Garcia-Ortiz JE, Cantu JM. Familial iridogoniodysgenesis and skeletal anomalies: a probable new autosomal recessive disorder. Clin Genet. 2004 Jul;66(1):23-9.

PubMedID: 15200504

Garcia-Cruz D, Mendoza R, Villar V, Sanchez-Corona J, Garcia-Cruz MO, Rojas Q, Chavez-Anaya F, Nazara Z, Barrios MT, Cantu JM. A distinct dysmorphic syndrome with congenital glaucoma and probable autosomal recessive inheritance. Ophthalmic Paediatr Genet. 1990 Mar;11(1):35-40.

PubMedID: 2348980