Chromosome 4 ring syndrome

December 31, 2014

Overview

Chromosome 4 ring syndrome: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.

Symptoms

The list of signs and symptoms mentioned in various sources for Chromosome 4 ring syndrome includes the 34 symptoms listed below: * Small head * Small jaw * Large ears * Dysplastic ears * Narrow ear canals * Preauricular pits * Preauricular tags * Dacryostenosis * Cataract * Iris abnormalities * Large nose * Beaked nose * Short philtrum * Epicanthal folds * Highly arched palate * Cleft palate * Tooth enamel hypoplasia * Clinodactyly * Thumb aplasia * Thumb hypoplasia * Abnormal palmar creases * Hip dislocation * Radial agenesis * Scoliosis * Reduced muscle tone * Retarded ossification * Seizures * Oliogmeganephronia * Epispadias * Undescended testes * Growth retardation * Speech retardation * Mental retardation * Feeding difficulty

Causes

* Beaked nose * Cataract * Cleft palate * Clinodactyly * Dysplastic ears * Epicanthal folds * Feeding difficulty * Growth retardation * Highly arched palate * Hip dislocation * Large ears * Large nose * Mental retardation * Preauricular tags * Reduced muscle tone * Scoliosis * Seizures * Short philtrum * Small head * Small jaw * Speech retardation

Diagnosis

The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Chromosome 4 ring syndrome. This medical information about signs and symptoms for Chromosome 4 ring syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 4 ring syndrome signs or Chromosome 4 ring syndrome symptoms. Furthermore, signs and symptoms of Chromosome 4 ring 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 4 ring syndrome symptoms.