Ring chromosome 10 syndrome

Also known as: Ring 10, Ring chromosome 10



Ring 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.

Go To Source: Orphanet



Medical Term Other Names Description
Hypertelorism Increased distance between eye sockets, Increased distance between eyes, Increased interpupillary distance, Widely spaced eyes, Excessive orbital separation, Widened interpupillary distance, Ocular hypertelorism, Wide-set eyes [more] Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Scrotal hypoplasia Hypoplastic scrotum
Microcephaly small cranium, Decreased circumference of cranium, Small head, Small skull, Small head circumference, Reduced head circumference, Decreased size of cranium, Decreased size of skull, Abnormally small skull, Decreased size of head, Abnormally small cranium, small calvarium, Abnormally small head [more] Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Hydronephrosis Severe distention of the kidney with dilation of the renal pelvis and calices.
Prominent nasal bridge Protruding nasal bridge, Prominent nasal root, Elevated nasal bridge, Convex bridge of nose, Protruding bridge of nose, High nasal bridge, Convex nasal bridge, Prominent bridge of nose [more] Anterior positioning of the nasal root in comparison to the usual positioning for age.
Clinodactyly Curvature of digit An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Growth delay Growth deficiency, Delayed growth, Growth retardation, Growth failure, Retarded growth, Very poor growth [more] A deficiency or slowing down of growth pre- and postnatally.
Strabismus Squint, Heterotropia, Cross-eyed, Squint eyes [more] Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
Renal hypoplasia Underdeveloped kidneys, Small kidneys, Hypoplastic kidney [more] Hypoplasia of the kidney.
Small for gestational age Low birth weight, Birth weight less than 10th percentile Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Cryptorchidism Undescended testes, Undescended testis, Cryptorchism [more] Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Single transverse palmar crease Single flexion crease, Transverse palmar crease, Simian line, Single palmar crease, Simian creases [more] The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.

Other Classifiers and IDs

  • OrphaNet: ORPHA:1438
  • MeSH: C538086
  • UMLS: C2931727