Recombinant chromosome 8 syndrome
Overview
A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
Symptoms
* Wide face * Midfacial hypoplasia * Small jaw * Brachycephaly * Craniosynostosis * Low-set ears * Malformed ears * Posteriorly angulated ears * Widely spaced eyes * Telecanthus * Downward slanting space between eyelids * Strabismus * Nystagmus * Refractory errors * Retinal changes * Enlarged optic disk * Excessive optic disk vessels * Anteverted nostrils * Depressed nasal bridge * Thick frenum * Down turned corners of mouth * Thin upper lip * Thick lower lip * Abnormal dentition * Gingival hyperplasia * Cleft lip * Cleft palate * Cleft uvula * Tooth abnormalities * Notching of alveolar ridges * Abnormal tooth spacing * Redundant neck skin * Abnormal sternum * Pectus excavatum * Clinodactyly * Camptodactyly * Simian creases * Deep palmar furrows * Abnormal patellae * Joint contractures * Scoliosis * Excessive muscle tone * Reduced muscle tone * Abnormal hair whorls * Frontal upsweep of hair * Cerebral ventriculomegaly * Delayed myelination * Seizures * Tetralogy of Fallot * Truncus arteriosus * Double outlet right ventricle * Patent ductus arteriosus * Persistent left superior vena cava * Pulmonic stenosis * Ventricular septal defect * Atrial septal defect * Undescended testes * Hypoplastic scrotum * Testicular immaturity * Hypoplastic clitoris * Hypoplastic labia * Kidney abnormalities * Dilatation of collecting system * Hydronephrosis * Renal dysplasia * Renal cysts * Ectopic kidney * Duplication of renal artery * Duplication of collecting system * Growth retardation * Mental retardation * Deafness