Chromosome 1- monosomy 1q4
Overview
A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as facial dysmorphism, retarded fetal growth, seizures, mental retardation, testicular problems and kidney defects.
Symptoms
* Sparse scalp hair * Absent scalp hair * Upslanted fissures * Short head * Broad cheeks * Epicanthic folds * Small head * Short neck * Squint * Vaginal abnormality * Weak eye muscles * Undescended testes * Abnormal rib number * Small jaw * Deep upper lip groove * Round face * Seizures * Short stature * Abnormal voice * Abnormal cry * Abnormally located urethral opening * Reduced muscle tone * Abnormal kidney development * Cleft palate * Prognathism * Fine hair * Wide set eyes * Fetal growth retardation * Mental retardation * Restricted joint mobility * Uterine abnormality * Ventricular septal defect
Diagnosis
This medical information about signs and symptoms for Chromosome 1, monosomy 1q4 has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 1, monosomy 1q4 signs or Chromosome 1, monosomy 1q4 symptoms. Furthermore, signs and symptoms of Chromosome 1, monosomy 1q4 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 1, monosomy 1q4 symptoms.