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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
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.
Abstract:
We report five patients with Hirschsprung disease, severe mental retardation and dysmorphic facial features including hypertelorism, prominent forehead and dysmorphic ears. All four boys had hypospadias. All had postnatally retarded growth. One of them had a de novo apparently balanced translocation 46,XY,t(2;11)(q22.2;q21). There are several reports on patients with Hirschsprung disease, mental retardation and various dysmorphic features. Some of them, especially those reported by Tanaka et al. [(1993) Pediatr Neurol 9:479-481], Lurie et al. [(1994) Genet Couns 5:11-14] and Mowat et al. [(1998) J Med Genet 35:617-623] closely resemble our patients suggesting that they have the same malformation syndrome.