A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
* Small head * Craniosynostosis * Lamboidal synostosis * Small jaw * Midfacial hypoplasia * Prominent forehead * Dysplastic ears * Deeply set eyes * Widely spaced eyes * Drooping upper eyelid * Upward slant of space between eyelids * Small nose * Wide nasal bridge * Hypoplastic nostrils * Broad philtrum * Large mouth * Long upper lip * Carp-shaped mouth * Short neck * Redundant neck skin * Broad chest * Widely spaced nipples * Small hands * Slender hands * Clinodactyly * Flexion deformity of hypoplastic thumbs * Bridged single palmar creases * Limited knee extension * Limited hip extension * Reduced muscle tone * Multiple exostoses * Sacral dimple * Increased deep tendon reflexes in upper limbs * Decreased deep tendon reflexes in lower limbs * Systolic murmur * Truncus arteriosus * Growth retardation * Speech retardation * Motor retardation * Mental retardation
signs and symptoms of Chromosome 8q 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 8q deletion syndrome symptoms.
Terms Similar to Chromosome 8, monosomy 8q: * Deletion 8q * Monosomy 8q