Chromosome 2- trisomy 2p
Overview
Trisomy 2p (medical condition): A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated Chromosome 2p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
Symptoms
The list of signs and symptoms mentioned in various sources for Chromosome 2p duplication syndrome includes the 39 symptoms listed below: * Small head * Prominent high forehead * Maxillary hypoplasia * Small mandible * Dysmorphic ears * Low-set ears * Widely spaced eyes * Strabismus * Short nose * Broad nasal bridge * Narrow palate * Pectus excavatum * Diaphragmatic hernia * Long fingers * Tapering fingers * Hyperflexible fingers * Fan-like toes * Dolichostenomelia * Limited hip movement * Scoliosis * Reduced muscle tone * Anencephaly * Occipital encephalocele * Situs inversus * Congenital heart defects * Bronchial aplasia * Pulmonary aplasia * Pulmonary hypoplasia * Bronchial hypoplasia * Abnormal lung lobulation * Undescended testes * Small penis * Shawl scrotum * Hypospadias * Hypoplastic kidneys * Mental retardation * Growth retardation * Slender body * Neuroblastoma
Causes
* Abnormal lung lobulation * Broad nasal bridge * Congenital heart defects * Growth retardation * Long fingers * Low-set ears * Mental retardation * Narrow palate * Neuroblastoma * Pectus excavatum * Reduced muscle tone * Scoliosis * Shawl scrotum * Short nose * Small head * Small penis * Strabismus * Widely spaced eyes
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Chromosome 2p duplication syndrome. This medical information about signs and symptoms for Chromosome 2p duplication syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 2p duplication syndrome signs or Chromosome 2p duplication syndrome symptoms. Furthermore, signs and symptoms of Chromosome 2p duplication 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 2p duplication syndrome symptoms.