Living with Microcephalic osteodysplastic dysplasia, Saul-Wilson type
A rare inherited condition with very short stature, distinct facial features, and bone differences.
Understanding Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Growth problems begin before birth and continue after birth at a very slow rate. Features often include a prominent forehead, sparse hair, and a beaked nose, and these can give an early-aging look in infancy. Bone differences include short fingers and toes, clubfoot, and flattened spine bones. Bones can be fragile, and children often have hearing loss or cataracts.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Small head (microcephaly)
- Prominent forehead and beaked nose
- Cataracts
- Clubfoot
- Flattened spine bones
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in COG4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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); Eye disease specialists (ophthalmologists); 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
Changes in the COG4 gene cause this condition. It is inherited in an autosomal dominant way, so a change in one copy of the gene can be enough.
Also known as: microcephalic osteodysplastic dysplasia; microcephalic osteodysplastic dysplasia saul wilson type; saul-wilson syndrome; swils
Patient organizations
- Little People of AmericaMicrocephalic osteodysplastic dysplasia, Saul-Wilson type · United States
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