Microphthalmia, Syndromic 8

Clinical Characteristics

Ocular Features:

Microphthalmia is a consistent feature and short palpebral fissures have been described in one patient. Microcornea has also been noted. At least one patient was blind.

Systemic Features:

The skull is small and mental retardation is usually a feature. Other variable abnormalities include cardiac defects, prognathism, split-feet, cryptorchidism, and cleft lip and palate. Few patients have been reported and the full phenotype is unknown.

Genetics

The gene remains unidentified in this rare syndrome but a locus has been identified at 6p21. In at least one patient with a balanced translocation of t(6;13)(q21;q12) a disruption in the SNX3 [1] gene at 6q21 was identified. Most cases occur sporadically and have cytogenetic abnormalities.

Treatment

Treatment Options:

No treatment is known.

References

Article Title:

Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype [2]

Vervoort VS, Viljoen D, Smart R, Suthers G, DuPont BR, Abbott A, Schwartz CE. Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. J Med Genet. 2002 Dec;39(12):893-9.

PubMed ID:

12471201

Ectrodactyly of lower limbs, congenital heart defect and characteristic facies in four unrelated Dutch patients: a new association [3]

Van Den Ende JJ, Van Der Burgt CJ, Jansweijer MC, Hamel BC, Brunner HG. Ectrodactyly of lower limbs, congenital heart defect and characteristic facies in four unrelated Dutch patients: a new association. Clin Dysmorphol. 1996 Jan;5(1):1-7.

PubMed ID:

8867653