Chromosome 1- 1p36 deletion syndrome
Overview
A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The symptoms are variable depending on the exact location of chromosomal deletion.
Symptoms
* Orofacial cleft * Underdeveloped midface * Prominent jaw * Hypermetropia * Reduced muscle tone * Oroharyngeal dysphasia * Dilated cardiomyopathy * Structural heart defect * Seizures * Short stature * Prominent forehead * Short head * Small head * Patent ductus arteriosus * Sensorineural hearing impairment * Feeding problems * Abnormal ears * Early death * Deep-set eyes * Hypothyroidism * Developmental delay * Mental retardation * Flat nasal bridge
Diagnosis
This medical information about signs and symptoms for Chromosome 1, 1p36 deletion syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 1, 1p36 deletion syndrome signs or Chromosome 1, 1p36 deletion syndrome symptoms. Furthermore, signs and symptoms of Chromosome 1, 1p36 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 1, 1p36 deletion syndrome symptoms.