Chromosome 13q deletion

Overview

A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.

Symptoms

* Small head * Mandibular cleft * Malformed ears * Small eyes * Widely spaced eyes * Colobomata * Retioblatoma * Aniridia * Cleft palate * Highly arched palate * Absent thumbs * Hypoplastic thumbs * Absent big toe * Hypoplastic big toe * Fused toes * Talipes calcaneovalgus * Fusion of metacarpal bones * Brachydactyly * Syndactyly * Clubfoot * Abnormal vertebrae * Reduced muscle tone * Hypoplasia of corpus callosum * Hypoplasia of forebrain * Aplasia of corpus callosum * Aplasia of forebrain * Anencephaly * Hydrocephaly * Aplasia of olfactory tracts * Hypoplasia of optic nerve * Encephalocele * Atrial septal defect * Ventricular septal defect * Tetralogy of Fallot * Patent ductus arteriosus * Coarctation of aorta * Situs inversus * Common aortopulmonary trunk * Duodenal atresia * Hirschprung disease * Intestinal malrotation * Imperforate anus * Aplasia of small intestine * Hypoplastic kidneys * Dilated urogenital collecting system * Hydronephrosis * Ambiguous genitalia * Absent uterus * Penoscrotal transposition * Blood coagulation factor VII deficiency * Blood coagulation factor X deficiency * Growth retardation * Mental retardation * Blindness * Deafness * Brain defects * Prominent nasal bridge * Drooping eyelids * Epicanthal folds * Small eye * Prominent maxilla * Small lower jaw * Prominent ears * Slanting ears * Low set ears * Short neck * Webbed neck * Small thumbs * Clinodactyly of fifth finger * Fused metacarpal bones 4 and 5 * Short big toe * Cardiac defect * Hypospadias * Undescended testes * Focal lumbar agenesis * Abnormal vertebrae * Anencephaly * Hydrocephaly

Diagnosis

This medical information about signs and symptoms for Chromosome 13q deletion syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 13q deletion syndrome signs or Chromosome 13q deletion syndrome symptoms. Furthermore, signs and symptoms of Chromosome 13q deletion 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 13q deletion syndrome symptoms.