Chromosome 18p deletion syndrome
Overview
Chromosome 18p deletion syndrome: Another name for 18p minus syndrome (or close medical condition association). 18p minus syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
Symptoms
The list of signs and symptoms mentioned in various sources for 18p minus syndrome includes the 50 symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round face * Small lower jaw * Wide mouth * Down-turned corners of mouth * Large protruding ears * High frequency of dental caries * Small hands * Small feet * Sunken chest * Brachycephaly * Broad face * Drooping upper eyelid * Tooth abnormalities * Low neck hairline * Funnel chest * Enlarged labia majora * Hand abnormalities * Glaucoma * Coloboma * Strabismus * Nystagmus * Small eye * Cataracts * Cyclopia * Choanal stenosis * Epicanthal folds * Cleft palate * Highly arched palate * Large mouth * Delayed tooth eruption * Anodontia * Hip dislocation * Autism * Amenorrhea * Juvenile diabetes * Autoimmune disorders * Thyroiditis * Graves disease * Male genital hypoplasia * Hypospadias * Intestinal malrotation * Septal defects
Causes
* Amenorrhea * Cataracts * Cleft palate * Delayed tooth eruption * Down-turned corners of mouth * Drooping eyelids * Drooping upper eyelid * Epicanthal folds * Epicanthal folds * Glaucoma * Graves disease * Growth retardation * Highly arched palate * Hip dislocation * Juvenile diabetes * Large mouth * Low nasal bridge * Mental retardation * Nystagmus * Reduced muscle tone * Round face * Small eye * Small feet * Small hands * Small head * Small lower jaw * Strabismus * Sunken chest * Tooth abnormalities * Wide-set eyes
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of 18p minus syndrome. This medical information about signs and symptoms for 18p minus syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of 18p minus syndrome signs or 18p minus syndrome symptoms. Furthermore, signs and symptoms of 18p minus 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 18p minus syndrome symptoms.