Rare Diseases Symptoms Automatic Extraction

Wolf-Hirschhorn syndrome; oro-dental manifestations and management.

[wolf-hirschhorn syndrome]

The major manifestations of the Wolf-Hirschhorn syndrome are developmental delay, short stature, mental impairment and epilepsy. Clefts of the lip and palate are sometimes present. Dental problems which are overshadowed by the major syndromic manifestations warrant appropriate management. We have documented an affected South African boy, discussed his dental management and reviewed the oro-dental implications of the disorder.

Diseases presenting "epilepsy" symptom

  • 22q11.2 deletion syndrome
  • adrenomyeloneuropathy
  • alexander disease
  • canavan disease
  • classical phenylketonuria
  • cohen syndrome
  • cowden syndrome
  • familial hypocalciuric hypercalcemia
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • locked-in syndrome
  • lymphangioleiomyomatosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • pendred syndrome
  • phenylketonuria
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

This symptom has already been validated