Cabezas Syndrome

About CABEZAS SYNDROME

Other Names:

CUL4B-related X-linked intellectual disability; Cabezas type of X-linked syndromic intellectual disability; Intellectual disability, X-linked, syndromic 15; X-linked intellectual disability, Cabezas type

Cabezas syndrome is a syndromic form of X-linked intellectual disability primarily characterized by a short stature, hypogonadism and abnormal gait, with other variable features resulting from mutations in the CUL4B gene. (1)

Intellectual disability (ID) affects 1–3% of the general population and is more prevalent in males than in females.1 X-linked ID (XLID) accounts for 5–10% of all types of ID and is the most common cause of ID in males.

Diagnosis may only occur after many tests and specialists. Ultimately if your child is Autistic, a geneticist is ultimately the one to give better answers. (Tests results can take from 30 days to 6 months for results).

Symptoms include but are not limited to: (2)

Severe speech impairment
Short stature
Behavioral disturbances
Gait abnormalities
Tremors
Seizures
Hypogonadism
Truncal Obesity
Unspecified facial dysmorphism
Small hands and feet

1. Okamoto, N., Watanabe, M., Naruto, T., Matsuda, K., Kohmoto, T., Saito, M., Masuda, K., & Imoto, I. (2017, January 19). Genome-first approach diagnosed cabezas syndrome via novel cul4b mutation detection. Human genome variation. Retrieved November 12, 2022, from [National Library of Medicine]

2. INSERM US14 — ALL RIGHTS RESERVED. (n.d.). Orphanet: X linked intellectual disability, Cabezas Type. Orphanet: X linked intellectual disability, Cabezas type. Retrieved November 12, 2022, from [Orpha]

3. CUL4B. wikidoc. (n.d.). Retrieved November 12, 2022, from [Wikidoc]

4. U.S. Department of Health and Human Services. (n.d.). Cabezas syndrome – diagnosis & treatment. Genetic and Rare Diseases Information Center. Retrieved November 12, 2022, from [GARD]