Pena Shokeir syndrome- type 1
Overview
Pena Shokeir syndrome, type 1: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
Symptoms
* Joint contractures * Diffuse muscle atrophy * Camptodactyly * Facial anomalies * Respiratory difficulties * Heart arrhythmias * Low set ears * Malformed ears * Cleft palate * Jaw problems * Small head * Expressionless face * Underdeveloped lungs * Scoliosis * Chest anomalies * Osteoporosis * Eating problems * Speech problems * Heart defects * Undescended testes * Short-gut syndrome * Malabsorption * Short umbilical cord * Growth deficiency * Adrenal hypoplasia * Short neck * Reduced fetal activity * Polyhydramnios * Rocker bottom feet * Widely spaced eyes * Telecanthus * Small mouth * Small lower jaw * High arched palate * Absent dermal ridges * Absence of flexion creases on fingers * Absence of flexion creases on palms
Causes
Conditions listing Pena Shokeir syndrome, type 1 as a symptom may also be potential underlying causes of Pena Shokeir syndrome, type 1. Our database lists the following as having Pena Shokeir syndrome, type 1 as a symptom of that condition: * Lethal arthrogryposis with anterior horn cell disease (LAAHD) * Lissencephaly type III - familial foetal akinesia sequence