A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
* Anencephaly * Aprosencephaly * Small head * Atelencephaly * Small jaw * Turricephaly * Sloping forehead * Mandibular cleft * Low set ears * Malformed ears * Flat nasal bridge * Retinoblastoma * Small eyes * Coloboma * Widely spaced eyes * Downward slanting space between eyelids * Aniridia * Cleft lip * Cleft palate * Highly arched palate * Agenesis of sternum * Absent thumbs * Hypoplastic thumbs * Big toes * Fused toes * Pes calcaneovalgus * Fusion of metacarpal bones * Brachydactyly * Syndactyly * Polydactyly * Oligodactyly * Clubfoot * Simian creases * Vertebral malformations * Pigmentation disorders * Alopecia areata * Hypoplastic corpus callosum * Aplastic corpus callosum * Hypoplastic forebrain * Aplastic forebrain * Malformed cerebral ventricles * Hypoplasia of temporal lobe * Hypoplasia of frontal lobe * Hydrocephaly * Aplasia of olfactory tracts * Hypoplasia of optic nerve * Enephalocele * Cerebral calcifying angiopathy * Atrial septal defect * Ventricular septal defect * Tetralogy of Fallot * Patent ductus arteriosus * Coarctation of aorta * Situs inversus * Common aortopulmonary trunk * Duplication of esophagus * Duodenal atresia * Cecum mobile * Anal stenosis * Hirschprung disease * Intestinal malrotation * Imperforate anus * Aplasia of small intestine * Hypopolastic kidney * Dilated urogenital collecting system * Hydronephrosis * Ambiguous genitalia * Hypospadias * Small penis * Absent uterus * Bifid scrotum * Undescended testes * Dysplasia of labia majora * Dysplasia of clitoris * Penoscrotal transposition * Adrenal hypoplasia * Growth retardation * Motor retardation * Speech retardation * Delayed puberty * Retinoblastoma
This medical information about signs and symptoms for Chromosome 13 ring syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 13 ring syndrome signs or Chromosome 13 ring syndrome symptoms. Furthermore, signs and symptoms of Chromosome 13 ring syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Chromosome 13 ring syndrome symptoms.