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.

Micrognathia

Developmental hypoplasia of the mandible.

Total: 3

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PMID (PMCID)
517581	MALE	Child
	Ring chromosome 6 in a child with minimal abnormalities.
	Carnevale A, Blanco B, Castillo J, del Castillo V, Dominguez D. Am J Med Genet. 1979;4(3):271-7.
	We describe a boy with a ring chromosome 6 and short stature, mild micrognathia, and bilateral transitional/simian creases.
511129	MALE
	Ring chromosome 6: case report and review of literature.
	Kini KR, Van Dyke DL, Weiss L, Logan MS. Hum Genet. 1979;50(2):145-9.
	A ring chromosome 6 has been identified by GTG-banding in a male with microcephaly, growth retardation, seizures, epicanthus, hypertelorism, micrognathia, and other congenital anomalies.
511129	MALE
	Ring chromosome 6: case report and review of literature.
	Kini KR, Van Dyke DL, Weiss L, Logan MS. Hum Genet. 1979;50(2):145-9.
	The most common findings in subjects with ring 6 include: profound to moderate mental retardation, microcephaly, prenatal growth failure, retarded bone age, epicanthal folds, flat nasal bridge, short neck, ears low-set or malformed, microphthalmia, and micrognathia.