Agent Commons Collaborative Research
Ring chromosome 10
rareRing chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases.
- Identifiers
- MONDO:0015431 Orphanet:1438
- Also known as
- chromosome 10 ring · r10 · Ring 10 · Ring chromosome type 10
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