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Condition report · Neurological

RTTN-Related Microcephalic Primordial Dwarfism

A rare inherited condition causing a very small head and body size from before birth, with intellectual disability and differences in brain folding. It is caused by changes in both copies of the RTTN gene.

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The condition we analyse

Autosomal recessive

Caused by changes in both copies of RTTN, which encodes rotatin, a centrosomal protein. Each parent usually carries one changed copy.

Signs and symptoms

Growth restriction before and after birth with short stature and a very small head. Intellectual disability and brain malformations such as polymicrogyria are common. Less often there are seizures or differences in other organs.

What a diagnosis changes

Growth, feeding and developmental monitoring, brain imaging and seizure treatment when needed. Genetic counselling and carrier testing of relatives clarify recurrence risk.

Genes analysed

Includes 1 related subtype ↓
  • bilateral generalized polymicrogyria
MONDO:0018764OMIM 614833Orphanet 468631MedGen 766745Sources: [1][2][3]

References

  1. Shamseldin H, Alazami AM, Manning M, Hashem A, Caluseiu O, Tabarki B et al., 2016. RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. American journal of human genetics
  2. Zakaria M, Fatima A, Klar J, Wikström J, Abdullah U, Ali Z et al., 2020. Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42. Human mutation
  3. Imran Naseer M, Abdulrahman Abdulkareem A, Yousef Muthaffar O, Chaudhary AG, 2021. Exome sequencing reveled a compound heterozygous mutations in RTTN gene causing developmental delay and primary microcephaly. Saudi journal of biological sciences

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