Chromosome 4- monosomy 4q

December 31, 2014

Overview

Chromosome 4, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.

Symptoms

The list of signs and symptoms mentioned in various sources for Chromosome 4, Monosomy 4q includes the 48 symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Frontal bossing * Ear canal stenosis * Aortic anomaly * Seizures * Wide-set eyes * Short nose * Broad nose * Depressed nasal bridge * Restricted elbow movement * Hip dislocation * Vertebral abnormalities * Hydrocephalus * Cleft palate * Small lower jaw * Low-set ears * Posteriorly rotated ears * Abnormal pinnae * Fifth finger clinodactyly * Tapering fifth finger * Pointed fifth fingernail * Duplicated fifth fingernail * Absent flexion creases on fifth fingers * Hypoplastic flexion creases on fifth fingers * Abnormal thumb or big toe implantation * Simian crease * Overlapping toes * Cardiac defects * Pulmonic stenosis * Anterior anus * Jejunal atresia * Cystic kidney * Rotated kidneys * Aminoaciduria * Feeding difficulty * Ventricular septal defect * Patent ductus arteriosus * Peripheral pulmonic stenosis * Aortic stenosis * Tricuspid atresia * Atrial septal defect * Aortic narrowing * Tetralogy of Fallot * Genitourinary defects * Gastrointestinal defects * Large head

Causes

* Broad nose * Cardiac defects * Cleft palate * Depressed nasal bridge * Feeding difficulty * Fifth finger clinodactyly * Frontal bossing * Growth retardation * Hip dislocation * Hydrocephalus * Large head * Low-set ears * Mental retardation * Overlapping toes * Patent ductus arteriosus * Posteriorly rotated ears * Reduced muscle tone * Seizures * Short nose * Simian crease * Small lower jaw * Vertebral 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 Chromosome 4, Monosomy 4q. This medical information about signs and symptoms for Chromosome 4, Monosomy 4q has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 4, Monosomy 4q signs or Chromosome 4, Monosomy 4q symptoms. Furthermore, signs and symptoms of Chromosome 4, Monosomy 4q 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 4, Monosomy 4q symptoms.