Chromosome 4 short arm deletion
Overview
Chromosome 4p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
Symptoms
The list of signs and symptoms mentioned in various sources for Chromosome 4p deletion syndrome includes the 55 symptoms listed below: * Cranial asymmetry * Small head * High forehead * Small jaw * Facial angiomas * Long face * Midfacial hypoplasia * Deeply seated ear malformations * Poorly differentiated ears * Lobeless pinnae * Narrow external ear canals * Preauricular dimple * Preauricular skin tags * Widely spaced eyes * Highly arched eyebrows * Downward slanting space between eyelids * Upward slanting space between eyelids * Strabismus * Coloboma of the iris * Drooping upper eyelid * Beaked nose * Wide nasal bridge * Prominent glabella * Short philtrum * Epicanthal folds * Carp-shaped mouth * Down turned corners of mouth * Cleft lip * Cleft palate * Thick lower lip * Highly arched palate * Hypodontia * Short neck * Broad neck * Fusion of ribs * Talipes equinovarus * Broad hands * Broad feet * Radioulnar synostosis * Fusion of vertebrae * Reduced muscle tone * Sacral dimple * Seizures * Heart defects * Auricular septal defect * Ventricular septal defect * Undescended testes * Hypospadias * Absent uterus * Streak gonads * Growth retardation * Motor retardation * Mental retardation * Long trunk * Thin limbs
Causes
* Auricular septal defect * Beaked nose * Broad feet * Broad hands * Cleft lip * Cleft palate * Coloboma of the iris * Cranial asymmetry * Down turned corners of mouth * Downward slanting space between eyelids * Drooping upper eyelid * Epicanthal folds * Growth retardation * Heart defects * High forehead * Highly arched palate * Long face * Mental retardation * Motor retardation * Reduced muscle tone * Sacral dimple * Seizures * Short neck * Short philtrum * Small head * Small jaw * Strabismus * Upward slanting space between eyelids * 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 4p deletion syndrome. This medical information about signs and symptoms for Chromosome 4p deletion syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 4p deletion syndrome signs or Chromosome 4p deletion syndrome symptoms. Furthermore, signs and symptoms of Chromosome 4p 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 4p deletion syndrome symptoms.