Chromosome 18- tetrasomy 18p
Overview
Chromosome 18, Tetrasomy 18p: A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities.
Symptoms
The list of signs and symptoms mentioned in various sources for Chromosome 18, Tetrasomy 18p includes the 43 symptoms listed below: * Small head * Facial asymmetry * Midfacial hypoplasia * Flat back of skull * Small jaw * Prominent forehead * Low set ears * Malformed ears * Rudimentary helix * Pinched nose * Flat bridge * Epicanthal folds * Small mouth * Triangular mouth * Highly arched palate * Cleft palate * Short neck * Finger abnormalities * Finger flexion contractures * Clinodactyly * Syndactyly * Camptodactyly * Overlapping fingers * Adduced thumbs * Simian crease * Scoliosis * Excessive muscle tone * Low hairline * Spasticity * Exaggerated tendon reflexes * Ankle clonus * Atypical babinski sign * Undescended testes * Small testes * Malrotation of kidneys * Horseshoe kidneys * Double ureter * Growth retardation * Mental retardation * Motor retardation * Feeding difficulty * Hyperreflexia * Difficulty coordinating movement
Causes
* Ankle clonus * Camptodactyly * Cleft palate * Clinodactyly * Difficulty coordinating movement * Epicanthal folds * Excessive muscle tone * Feeding difficulty * Flat back of skull * Growth retardation * Highly arched palate * Hyperreflexia * Low hairline * Low set ears * Malformed ears * Mental retardation * Motor retardation * Overlapping fingers * Prominent forehead * Scoliosis * Short neck * Simian crease * Small head * Small jaw * Small mouth * Small testes * Spasticity * Syndactyly
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Chromosome 18, Tetrasomy 18p. This medical information about signs and symptoms for Chromosome 18, Tetrasomy 18p has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 18, Tetrasomy 18p signs or Chromosome 18, Tetrasomy 18p symptoms. Furthermore, signs and symptoms of Chromosome 18, Tetrasomy 18p 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 18, Tetrasomy 18p symptoms.