Acromesomelic dysplasia Maroteaux type

Synonyms

2

Overview

Acromesomelic dysplasia, Maroteaux type is a rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies.

In most of infant birth length and weight is normal but skeletal growth falls and at the age of 1-2 years of age, diagnostic skeletal changes are present and consist of short and misshapen bones of the limbs and spine, and abnormal growth plates.

Symptoms

  • Abnormal vertebral size
  • Abnormal vertebral shape
  • Bowed diaphysis
  • Short digits
  • Depressed nasal bridge
  • Long narrow head
  • Prominent forehead
  • Flat foot
  • Hyperextensible joints
  • Kyphosis
  • Lordosis
  • Short limbs
  • Restricted joint mobility
  • Shoulder blade anomaly
  • Scoliosis
  • Short foot
  • Short stature

Resources

  • NIH