Living with Syndromic X-linked intellectual disability Shashi type
An X-linked condition with moderate intellectual disability, obesity, large testes, and distinct facial features.
Understanding Syndromic X-linked intellectual disability Shashi type
People have large testes (macroorchidism) and a distinct face with large ears, a prominent lower lip, and puffy eyelids. Speech is delayed. It has been described in nine boys from two families. Signs may begin in the newborn or infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Moderate intellectual disability
- Delayed speech
- Obesity
- Large testes
- Large ears and prominent lower lip
- Puffy eyelids
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in RBMX are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with FACES: The National Craniofacial Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the RBMX gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: intellectual developmental disorder, syndromic 11, shashi type, x-linked recessive; intellectual developmental disorder, x-linked, syndromic 11; intellectual disability, x-linked, syndromic 11, shashi type; mrxs11; shashi x-linked intellectual disability syndrome; smrxs
Patient organizations
- FACES: The National Craniofacial AssociationSyndromic X-linked intellectual disability Shashi type · United States
You are more than your diagnosis
Perspectives from people navigating life with Syndromic X-linked intellectual disability Shashi type.
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