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Condition report · Neurological

Siddiqi Syndrome

A very rare inherited condition causing progressive hearing loss, movement problems (dystonia) with loss of motor skills, and dry, scaly skin resembling ichthyosis. Only a few families have been reported. It is caused by changes in both copies of the FITM2 gene.

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The condition we analyse

Autosomal recessive

Caused by changes in both copies of the FITM2 gene. Only a few families have been reported.

Signs and symptoms

Progressive sensorineural hearing loss starting in childhood, dystonia and loss of motor skills, and ichthyosis-like dry, scaly skin. Poor growth has been described. Learning difficulty and leg stiffness (spastic paraplegia) have also been reported.

What a diagnosis changes

Hearing assessment with hearing aids or cochlear implants, neurological care for dystonia, skin care and physiotherapy. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.

Genes analysed

Also known as

SIDDIS

MONDO:0032842OMIM 618635MedGen 1684813Sources: [3][1][2]

References

  1. Ahmadi R, Bavarsad MJ, Feizollah Jani M, Azizimalamiri R, 2025. FITM2-Related Siddiqi Syndrome in Two Iranian Siblings. Clinical case reports
  2. Trilla P, Rodriguez-Revenga L, Sanchez A, Madrigal I, Milisenda JC, Muñoz E et al., 2026. Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report. Cellular and molecular neurobiology
  3. Rudenskaya GE, Bostanova FM, Medvedeva AS, Lotnik EE, Chausova PA, Shchagina OA, 2024. [A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

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