Chromosome 18 deletion syndrome

Overview

Chromosome 18 deletion syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing.

Symptoms

The list of signs and symptoms mentioned in various sources for Chromosome 18 deletion syndrome includes the 35 symptoms listed below: * Small stature * Mental retardation * Reduced muscle tone * Poor coordination * Nystagmus * Conductive deafness * Seizures * Small head * Midfacial hypoplasia * Deep-set eyes * Carp-shaped mouth * Narrow palate * Prominent ear antihelix * Prominent ear antiragus * Narrow external ear canal * Long hands * Tapered fingers * Short first metacarpal * Distal axial triradius * Simian crease * Distal hypoplastic tapering of lower legs * Abnormal toe placement * Vertical talus * Clubfoot * Hypoplastic labia minora * Undescended testes * Small scrotum * Small penis * Skin dimples over acromion * Skin dimples over knuckles * Cardiac defect * Impaired vision * Impaired hearing * Behavioral problems * Autistic behavior

Causes

* Behavioral problems * Cardiac defect * Clubfoot * Deep-set eyes * Impaired hearing * Impaired vision * Mental retardation * Narrow palate * Nystagmus * Poor coordination * Reduced muscle tone * Seizures * Simian crease * Small head * Small penis * Small stature * Tapered fingers

Diagnosis

The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Chromosome 18 deletion syndrome. This medical information about signs and symptoms for Chromosome 18 deletion syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 18 deletion syndrome signs or Chromosome 18 deletion syndrome symptoms. Furthermore, signs and symptoms of Chromosome 18 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 18 deletion syndrome symptoms.