Ring chromosome 4 syndrome

Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.

Micrognathia

Developmental hypoplasia of the mandible.

Total: 1

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PMID (PMCID)
7270516	MALE	Infant
	Ring 4 chromosome with terminal p and q deletions.
	Finley WH, Finley SC, Chonmaitree T, Koors JE, Chandler WC. Am J Dis Child. 1981;135(8):729-31.
	A ring 4 chromosome was found in a boy with low birth weight, microcephaly, micrognathia, rounded broad nose, malformed ears, cleft soft palate, and retardation in growth and development.