The sibling pair had microcephaly, hypertelorism, short stature, submucosal cleft palate, learning problems, and Hirschsprung aganglionic megacolon (HAM).

It is characterized by a combination of any of the following symptoms: Central nervous system:[10][6][2] Cardiovascular:[3] Gastrointestinal:[2][5] Optical:[2][6] Dysmorphic facial features:[2][6][10] Anatomical abnormalities:[8][2] Additionally, while inconsistent, the following symptoms have been observed:[2] Diagnosis is initiated by presentation of clinical features and confirmed by genetic testing.

Cardiovascular complications present the greatest mortality risk to individuals with Goldberg-Shprintzen syndrome, so these are the priority for care and necessitate a cardiologist.

[7] The changes in the KIAA1279 gene are expected to cause problems in nervous system development due to a loss of functioning protein product.

This is shown by the KIAA1279 gene's connection to both Hirschsprung's disease and bilateral generalized polymicrogyria, characteristics of Goldberg-Shprintzen syndrome.

[7] The prevalence of Goldberg-Shprintzen syndrome is scattered throughout the world, with cases recorded in France, Pakistan, Italy, Iraq, and multiple in Morocco.