Allain Babin Demarquez syndrome

Synonyms

Acro cephalo synostosis
Craniosynostosis synostoses hypertensive nephropathy

Overview

A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.

Symptoms

  • Flared nostrils
  • Prominent forehead
  • High forehead
  • Humeroradial fusion
  • Abnormal rib structure
  • Flat occiput
  • Camptodactyly of some fingers
  • Depressed nasal bridge
  • Proteinuria
  • Renal glomerular defect
  • Restricted joint mobility
  • Scoliosis
  • Female pseudohermaphrodism
  • Underdeveloped antihelix
  • Abnormal helix
  • Low-set ears
  • Narrow hips
  • Narrow rib cage
  • Overlapping toes
  • Deep upper lip groove
  • Abnormal vertebral size
  • bnormal vertebral shape
  • Short head
  • Small ear lobe
  • Underdeveloped ear lobe
  • Ankle bone fusion
  • Tented upper lip
  • Hypertension
  • Small jaw
  • Small mouth
  • Multiple sutural synostoses
  • Tapered fingers
  • Narrow diaphysis

Resources

  • NIH