Ring chromosome 6 syndrome

Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported.

Aniridia

Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.

Total: 2

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PMID (PMCID)
3544845	MALE	Infant
	Ring chromosome 6: report of a patient and literature review.
	Chitayat D, Hahm SY, Iqbal MA, Nitowsky HM. Am J Med Genet. 1987;26(1):145-51.
	A patient with ring chromosome 6 had most of the manifestations previously reported in this syndrome and also had albinoid fundi and unilateral aniridia, findings not previously described.
3777023	MALE	Infant
	Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6.
	Levin H, Ritch R, Barathur R, Dunn MW, Teekhasaenee C, Margolis S. Am J Med Genet. 1986;25(2):281-7.
	Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6.