Pena Shokeir syndrome Type 2
Overview
Pena-Shokeir syndrome Type 2: A rare progressive congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities as well as eye abnormalities.
Symptoms
* Reduced white matter of brain * Gray mottling of white matter of brain * Subependymal focal gliosis of third brain ventricle * Focal microgyria * Hypoplasia of temporal and hippocampal gyri * Hypoplasia of optic tracts * Hypoplasia of chiasm * Agenesis of corpus callosum * Intracranial calcification * Infantile spasms * Generalized reduced muscle tone * Hyporeflexia * Areflexia * Small head * Prominent nose root * Large ear pinnae * Upper lip overlapping lower lip * Small lower jaw * Blepharphimosis * Deep-set eyes * Small eye * Cataracts * Nystagmus * Camptodactyly * Mild elbow flexion contractures * Mild knee flexion contractures * Rocker-bottom feet * Vertical talus * Posteriorly placed second metatarsal * Longitudinal groove in the soles along the second metatarsal * Hirsutism * Kyphoscoliosis * Widely set nipples * Shallow acetabular angles * Coxa valga * Longitudinal groove on soles * Osteoporosis * Renal defects
Causes
* Areflexia * Camptodactyly * Cataracts * Coxa valga * Deep-set eyes * Hirsutism * Hyporeflexia * Infantile spasms * Kyphoscoliosis * Nystagmus * Osteoporosis * Rocker-bottom feet * Small eye * Small head * Small lower jaw * Widely set nipples