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Hirschsprung disease, mental retardation and dysmorphic facial features in five unrelated children

H Kääriäinen1, C Wallgren-Pettersson, A Clarke

  • 1Department of Medical Genetics, The Family Federation of Finland, Helsinki. helena.kaariainen@vaestoliitto.fi

Clinical Dysmorphology
|July 12, 2001
PubMed

Insights

This study describes five patients with Hirschsprung disease, intellectual disability, and distinct facial features. The findings suggest a potential shared malformation syndrome among these individuals.

Area of Science:

  • Genetics
  • Pediatric Medicine
  • Clinical Dysmorphology

Background:

  • Hirschsprung disease is a congenital disorder characterized by the absence of ganglion cells in the distal bowel.
  • Intellectual disability and dysmorphic features can occur in conjunction with Hirschsprung disease, suggesting underlying genetic syndromes.

Observation:

  • Five patients presented with Hirschsprung disease, severe intellectual disability, and specific facial anomalies (hypertelorism, prominent forehead, dysmorphic ears).
  • Four male patients exhibited hypospadias, and all patients showed postnatal growth retardation.
  • One patient had a de novo balanced translocation t(2;11)(q22.2;q21).

Findings:

  • The clinical presentation of the reported patients closely resembles previously described cases, suggesting a consistent malformation syndrome.
  • The presence of Hirschsprung disease, intellectual disability, and specific dysmorphic features may indicate a recognizable genetic condition.

Implications:

  • Recognition of this syndrome can aid in earlier diagnosis and genetic counseling for affected families.
  • Further research into the genetic basis of this syndrome is warranted to identify causative genes or chromosomal regions.
  • Understanding this syndrome may improve management strategies for patients with Hirschsprung disease and associated developmental issues.

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