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X-linked intellectual disability, Cabezas type

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The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Disease Overview

X-linked intellectual disability, Cabezas type is characterized by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome.

Synonyms

  • Cabezas syndrome
  • Cabezas syndrome; syndromic X-linked intellectual disability 15
  • Cabezas syndrome; syndromic X-linked mental retardation 15
  • Cabezas type of X-linked syndromic intellectual disability
  • Cul4B-related X-linked intellectual disability
  • MRSS
  • MRXS15
  • MRXSC
  • X-linked intellectual disability with short stature
  • X-linked intellectual disability with short stature, hypogonadism, and abnormal gait
  • X-linked intellectual disability, Cabezas type
  • X-linked mental retardation with short stature
  • X-linked mental retardation with short stature, hypogonadism, and abnormal gait
  • intellectual disability, X-linked, syndromic 15
  • intellectual disability, X-linked, syndromic 15 (Cabezas type)
  • intellectual disability, X-linked, syndromic, Cabezas type
  • intellectual disability, X-linked, with short stature
  • intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait
  • mental retardation, X-linked, syndromic 15
  • mental retardation, X-linked, syndromic 15 (Cabezas type)
  • mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive
  • mental retardation, X-linked, syndromic, Cabezas type
  • mental retardation, X-linked, with short stature
  • mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait
  • syndromic X-linked intellectual disability Cabezas type
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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