Features include always present findings: Decreased body weight, Severe short stature, Anteverted nares, and Brachydactyly and others; and common findings: Spotty hypopigmentation, Recurrent infections, Low red blood cell count (anemia), and Hypoplasia of the corpus callosum and others. 31 total HPO annotations.

CRIPT encodes CXXC repeat containing interactor of PDZ3 domain (101 aa). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses Highest expression in Brain Spinal cord cervical c-1 (32.5 TPM) and Cells Cultured fibroblasts (20.5 TPM).

Rothmund-Thomson syndrome type 3 is associated with mutations in the CRIPT gene on chromosome 2.

The CRIPT protein participates in Expression of TDGF1 (CRIPTO) pathway.

CRIPT is classified as a druggable target with score 0.0.

Genetic testing for CRIPT is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 16 always present features, 5 common features.

No clinical trials have been registered for Rothmund-Thomson syndrome type 3.

9 publications have been identified in PubMed for Rothmund-Thomson syndrome type 3. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (22%).

Recent Publications

• Samara AA (2026). [PMID: 41595474](https://pubmed.ncbi.nlm.nih.gov/41595474/). *Genes (Basel)*. [Case Report / Case Series]

• Sama AD (2025). [PMID: 40025372](https://pubmed.ncbi.nlm.nih.gov/40025372/). *Arch Dermatol Res*. [Basic Science / Preclinical]

• Beck CW (2025). [PMID: 40819286](https://pubmed.ncbi.nlm.nih.gov/40819286/). *G3 (Bethesda)*. [Basic Science / Preclinical]

• Norppa AJ (2025). [PMID: 39761998](https://pubmed.ncbi.nlm.nih.gov/39761998/). *RNA*. [Review / Meta-Analysis]

• Yeter B (2025). [PMID: 40331102](https://pubmed.ncbi.nlm.nih.gov/40331102/). *Mol Syndromol*. [Case Report / Case Series]