The condition is very rare. Not a lot is known about the disease. We are working with researches to ask the right questions before getting to answers.

• Sedaghatian type Spondylometaphyseal Dysplasia (SSMD) is an extremely rare progressive disorder.
• The disease is congenital and majority of patients die in the first days after birth due to respiratory distress.

• We know of four kids (3 male, 1 female) living with this condition.
• All babies lack head control, cannot sit unsupported, cannot walk, have feeding difficulties, and significantly delayed physical and cognitive development.
• The oldest kid developed intractable seizures at the age of 3 and continues to be on anticonvulsants to reduce breakthrough seizures.

• The long bones (metaphyses) show cupping/flaring with flattening of the vertebrae (platyspondyly)
• Cardiac arrhythmia
• Central nervous system abnormalities including hypogenesis of corpus callosum and cerebellar hypoplasia.

There are no treatments available as of today. Antioxidants such as Vitamin E, N-Acetyl-Cysteine, Co-Enzyme Q10 have been shown to be effective in experiments, but none of those cross the blood brain barrier.