Features include always present findings: Absent ossification of calvaria, Lower limb undergrowth, Abnormal nasal morphology, and Sideways curvature of the spine (scoliosis) and others; and common findings: Horseshoe kidney, Bilateral trilobed lung, Tetralogy of Fallot, and Congenital diaphragmatic hernia.

CHUK encodes component of inhibitor of nuclear factor kappa B kinase complex (745 aa). Serine kinase that plays an essential role in the NF-kappa-B signaling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses. Highest expression in Nerve Tibial (13.8 TPM) and Cells EBV-transformed lymphocytes (13.6 TPM).

Cocoon syndrome is associated with mutations in the CHUK gene on chromosome 10.

CHUK is classified as a druggable target (Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Transcription Factor categories) with score 7.5.

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

Phenotype severity distribution: 14 always present features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for cocoon syndrome.

26 publications have been identified in PubMed for cocoon syndrome. Research spans Case Report / Case Series (69%), Other (12%), and Review / Meta-Analysis (12%).