Chromosome 7 ring syndrome
Overview
A rare chromosomal disorder where the ends of chromosome 7 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 of the genetic deletion.
Symptoms
* Small head * Craniosynostosis * Prominent forehead * Midfacial dysplasia * Small ears * Low-set ears * Widely spaced eyes * Upward slanting space between eyelids * Broad nasal root * Cleft lip * Cleft palate * Deep palmar creases * Deep plantar creases * Café au lait spots * Pigmented nevi * Nevus flammeus * Fusion of cerebral hemispheres * Agenesis of olfactory bulb * Teterotopic Purkinje cells in cerebellar white matter * Brain atrophy * Brain hypomyelination * Convulsions * Quadriplegia * Congenital heart disease * Situs inversus * Pneumonia * Respiratory distress * Small penis * Growth retardation * Mental retardation * Feeding difficulty * Failure to thrive
Diagnosis
signs and symptoms of Chromosome 7 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 7 ring syndrome symptoms.
Resources
Chromosome 7 ring syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Chromosome 7 ring syndrome, or a subtype of Chromosome 7 ring syndrome, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)