A rare chromosomal disorder where genetic material from one or both ends of chromosome 12 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.
* Small head * Small jaw * Overbite * Sunken chest * Breast hypoplasia * Clinodactyly * Syndactyly between 2nd and 3rd toes * Tapering fingers * Symphalangism of the thumb * Interdigital crease * Scoliosis * Café au lait spots * Sebaceous acne *on face and back * Uterine leiomyoma * Toe nail dystrophy * Growth retardation * Hypothyroidism * Mental retardation * Leiomyoma
This medical information about signs and symptoms for Chromosome 12 ring syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 12 ring syndrome signs or Chromosome 12 ring syndrome symptoms. Furthermore, signs and symptoms of Chromosome 12 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 12 ring syndrome symptoms.