Chromosome 21 monosomy
Overview
Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
Symptoms
The list of signs and symptoms mentioned in various sources for Chromosome 21 monosomy includes the 62 symptoms listed below: * Dysmorphic face * Asymmetric face * Small head * Small jaw * Prominent forehead * Low set ears * Malformed ears * Large pinnae * Down slanting space between eyelids * Widely spaced eyes * Telecanthus * Anterior eye chamber defects * Coloboma * Optic atrophy * Large nose * Broad nose * Long philtrum * Epicanthal folds * Large mouth * Down turned corners of mouth * Highly arched palate * Cleft lip * Cleft palate * Delayed dentition * Abnormal tooth roots * Abnormal tooth crowns * Short neck * Short thorax * Narrow pelvis * Small hands * Small feet * Overlapping fingers * Overlapping toes * Flexed fingers * Flexed toes * Syndactyly of toes * Clinodactyly * Clubfoot * Arthrogryposis * Kyphosis * Scoliosis * Excessive muscle tone * Reduced muscle tone * Seizures * Spastic paresis * Hyperactive reflexes * Brain abnormalities * Brain atrophy * Dilated brain ventricles * Small cerebrum * Small cerebellum * Respiratory distress * Imperforate anus * Kidney agenesis * Micropenis * Hypospadias * Undescended testes * Growth retardation * Motor retardation * Mental retardation * Failure to thrive * Death usually before birth or by 20 months
Causes
* Arthrogryposis * Brain abnormalities * Brain atrophy * Broad nose * Cleft lip * Cleft palate * Clinodactyly * Clubfoot * Death usually before birth or by 20 months * Dilated brain ventricles * Down slanting space between eyelids * Down turned corners of mouth * Epicanthal folds * Excessive muscle tone * Failure to thrive * Growth retardation * Highly arched palate * Hyperactive reflexes * Kyphosis * Large mouth * Large nose * Long philtrum * Low set ears * Malformed ears * Mental retardation * Motor retardation * Narrow pelvis * Optic atrophy * Overlapping fingers * Overlapping toes * Prominent forehead * Reduced muscle tone * Respiratory distress * Scoliosis * Seizures * Short neck * Small feet * Small hands * Small head * Small jaw * Syndactyly of toes * 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 21 monosomy. This medical information about signs and symptoms for Chromosome 21 monosomy has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 21 monosomy signs or Chromosome 21 monosomy symptoms. Furthermore, signs and symptoms of Chromosome 21 monosomy 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 21 monosomy symptoms.