Living with Skeletal dysplasia-intellectual disability syndrome
A rare X-linked condition with bone differences in the spine and hands, short height and moderate learning challenges.
Understanding Skeletal dysplasia-intellectual disability syndrome
People have short stature, fused neck bones, scoliosis, a small sacrum and short middle finger bones. They also have moderate intellectual disability and eye muscle weakness (abducens palsy). Glucose intolerance and a closed anus have also been described. GARD notes there have been no further descriptions in the medical literature since 1977. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Scoliosis
- Fused neck bones
- Short fingers and toes
- Type 2 diabetes
- Half-formed bones in the upper spine
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 bone and joint specialists, brain and nervous system specialists, digestive system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America
- 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
GARD says changes in genes cause this condition, but it doesn't list a gene. The condition is X-linked, meaning the gene is on the X chromosome.
Also known as: christian syndrome; chrs; impaired intellectual development, skeletal dysplasia, and abducens palsy; intellectual developmental disorder, x-linked, syndromic, christian type; mental retardation-skeletal dysplasia; skeletal dysplasia with intellectual disability syndrome
Patient organizations
- Little People of AmericaSkeletal dysplasia-intellectual disability syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Skeletal dysplasia-intellectual disability syndrome.
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