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 Hide

  • 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 Hide

Prevention Hide

Diagnosis Hide

Prognosis Hide

Treatment Hide

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