OMIM ID:
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Microphthalmia, Syndromic 8
Alternate Names
MCOPS8
MMEP
microcephaly with microphthalmia and ectrodactyly of lower limbs and prognathism
Defective Genes
SNX3
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
Inheritance
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 gene at 6q21 was identified. Most cases occur sporadically and have cytogenetic abnormalities.