Chromosome 12p deletion


Chromosome 12p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities.


* Small head * Narrow back of skull * Prominent back of skull * Frontal bossing * Small jaw * Retrognathia * Flat midface * Low set ears * Malformed ears * Widely spaced eyes * Synophrys * Downward slanting space between eyelids * Sclerocornea * Blue sclera * Strabismus * Optic atrophy * Prominent nasal bridge * Flat nasal bridge * Bulbous nose * Upturned nose tip * Pit at base of nasal septum * Choanal atresia * Epicanthal folds * Delayed dentition * Crowded teeth * Malocclusion * Tooth agenesis * Enamel hypoplasia * Highly arched palate * Narrow palate * Protruding tongue * Cleft lip * Short neck * Redundant neck skin * Asymmetric thorax * Pectus excavatum * Widely set nipples * Inguinal hernia * Omphalocele * Camptodactyly * Ulnar finger deviation * Low set thumbs * Excessive muscle tone * Reduced muscle tone * Hypoplastic toe nails * Seizures * Coarctation of aorta * Ventricular septal defect * Aortic stenosis * Absent right pulmonary artery * Atrial septal defect * Small penis * Undescended testes * Growth retardation * Mental retardation


This medical information about signs and symptoms for Chromosome 12p deletion syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 12p deletion syndrome signs or Chromosome 12p deletion syndrome symptoms. Furthermore, signs and symptoms of Chromosome 12p 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 12p deletion syndrome symptoms.