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Condition report · Neurological

Radio-Tartaglia Syndrome

A neurodevelopmental condition causing developmental delay, intellectual disability and low muscle tone. It results from loss of one working copy of the SPEN gene.

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The condition we analyse

Autosomal dominant

Caused by changes that stop one copy of the SPEN gene from working. SPEN encodes a transcriptional repressor. Some changes arise de novo, and others are inherited from a parent.

Signs and symptoms

Developmental delay and variable intellectual disability, with hypotonia and behavioural problems. Facial features can be distinctive, and high or narrow palates are common, with cleft palate occasionally seen.

What a diagnosis changes

Developmental, educational and behavioural support, with assessment of the palate. Some cases arise de novo and others are inherited from a parent, so genetic counselling and parental testing guide recurrence risk.

Genes analysed

Also known as

SPEN-related neurodevelopmental disorder

MONDO:0859143OMIM 619312Orphanet 662234MedGen 1778557Sources: [2][1][3]

References

  1. Nishi E, Yanagi K, Okamoto N, Kaname T, 2025. Clinical Features of a Japanese Girl With Radio-Tartaglia Syndrome due to a SPEN Truncating Variant. American journal of medical genetics. Part A
  2. He Y, Gao L, Xu S, Li G, Han X, Hua R et al., 2026. Prenatal Diagnosis of Radio-Tartaglia Syndrome Caused by a Loss-of-Function Variant in SPEN in a Chinese Family. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
  3. Kim BJ, Hernández-García A, Curtis DL, Thompson O, Champaigne N, Priolo M et al., 2026. SPEN deficiency contributes to the development of orofacial clefts in humans and mice. Human molecular genetics

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