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Condition report · Neurological

Turnpenny-Fry Syndrome

A rare neurodevelopmental disorder causing developmental delay, intellectual disability and distinctive facial features. It is caused by changes in one copy of the PCGF2 gene, which helps control when genes are switched off.

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The condition we analyse

Autosomal dominant

Caused by changes in one copy of PCGF2, a component of the Polycomb repressive complex 1 that silences genes during development. A recurrent missense change, p.Pro65Leu, has been described.

Signs and symptoms

Developmental delay and intellectual disability are central features. Distinctive facial features (facial dysmorphism) and skeletal abnormalities are also reported. Epilepsy has been reported in some cases.

What a diagnosis changes

Developmental and educational support, feeding and growth monitoring, and heart and skeletal assessment. Recurrence risk depends on whether a parent carries the change, so genetic counselling and parental testing are recommended.

Genes analysed

Also known as

TPFS

MONDO:0032707OMIM 618371Orphanet 688642MedGen 1683283Sources: [1][2][3]

References

  1. Qi KY, Shen M, Yang K, Yan YS, Wu J, Wang YP et al., 2022. Investigation of an inherited PCGF2: p.Pro65Leu mutation causing Turnpenny-Fry syndrome. American journal of translational research
  2. Ercoskun P, Yuce Kahraman C, Adanur Saglam K, Kanjee M, Tatar A, 2022. A new case of Turnpenny-Fry syndrome. American journal of medical genetics. Part A
  3. Khanna R, Surendranath A, Singhal S, 2025. Epilepsy in Turnpenny-Fry Syndrome: A Case Report. Cureus

Other neurological conditions

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