Sakati–Nyhan–Tisdale syndrome

The syndrome belongs to a group of rare genetic disorders known as acrocephalopolysyndactyly or ACPS, for short.

[1] The syndrome is detected by abnormalities noted at birth involving the head, limbs, heart, ears, and skin.

[1] It is characterized by premature closure of the fibrous joints between certain bones of the skull in a process known as craniosynostosis.

Body development subsequently slows down, but some problems can be fixed under proper guidance, such as learning to walk with special crutches by five years of age.

[3] Although no cause has been officially confirmed, researchers speculate the disease might result from a genetic mutation that sporadically occurs for unknown reasons.