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Goldberg-Shprintzen megacolon syndrome

Synonym(s) GOSHS
Megacolon-microcephaly syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • Q87.8
  • C1836123
  • C537279
MedDRA -


Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. It has been described in about 10 patients, boys and girls. Some of the reported cases also had iris coloboma, hypotonia, and ptosis. One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, telecanthus, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias with bifid scrotum, cutaneous syndactyly between the second and third fingers, and rocker bottom feet. The Goldberg-Shprintzen megacolon syndrome appears to be inherited as an autosomal recessive trait and was found to be caused by mutations in KIAA1279 on chromosome 10q21.3-q22.1. Severe constipation and abdominal distention lead to diagnosis of congenital megacolon in the first few days of life. Histological findings from rectal biopsy show aganglionosis of the submucosal plexus and confirm Hirschsprung disease. Colostomy may be performed in an emergency. In some patients, epilepsy appears in the first months. Computerised tomography (CT) and magnetic resonance imaging (MRI) of the brain should be carried out in order to evaluate the consequences of microcephaly and/or to search for causes of epilepsy. They may show polymicrogyria (malformation of the cerebral cortex characterized by an increased number of smaller circonconvolutions or gyri), ventriculomegaly, loss of parenchymal volume (brain atrophy or hypoplasia, especially of the white matter), thin and hypoplastic corpus callosum, and variable disruption of cerebral cortical structure. Genetic counseling should inform parents of an affected child of a recurrence risk of 25% for each subsequent pregnancy. No case of prenatal diagnosis has been reported so far, but after the birth of an index case, the syndrome might be suspected if microcephaly, growth retardation and/or hyperechogen gut are observed by ultrasound. Fetal MRI should then be performed to search for brain anomalies.

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