Rare Diseases Symptoms Automatic Extraction

Homozygous N540K hypochondroplasia--first report: radiological and clinical features.


We describe a 16-month-old male with N540K homozygous mutation in the FGFR3 gene who showed a more severe phenotype than hypochondroplasia (HCH). To our knowledge, a homozygous state for this mutation causing HCH has not been reported before. The clinical and radiological characteristics of our patient represent an intermediate condition between achondroplasia and achondroplasia/hypochondroplasia compound heterozygosity. This case represents a new expression of FGFR3 spectrum and it is of considerable importance for the genetic counseling in cases where both parents are affected with HCH.

Diseases presenting "severe phenotype" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • adrenomyeloneuropathy
  • alexander disease
  • alpha-thalassemia
  • aniridia
  • aromatase deficiency
  • canavan disease
  • cystinuria
  • dentin dysplasia
  • dentinogenesis imperfecta
  • harlequin ichthyosis
  • hirschsprung disease
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • krabbe disease
  • lamellar ichthyosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • neonatal adrenoleukodystrophy
  • oligodontia
  • triple a syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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