Living with Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
A rare genetic bone condition with short stature, bowed forearms, a rounded belly, and facial differences.
Understanding Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
People have short stature, an inward curve of the lower back, and a rounded belly. The forearms are bowed and short, and the elbows don't fully straighten. The knees may bow outward a little. Facial features include a prominent forehead, wide-set eyes, and a flat nasal bridge. Signs may begin in infancy.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes:
- Short stature
- Inward curve of the lower back
- Rounded belly
- Bowed, short forearms
- Elbows that don't fully straighten
- Mild bowing of the legs
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 Kniest SED Group
- 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 genes (variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of a gene from each parent. GARD doesn't list which gene.
Also known as: smd with bowed forearms and facial dysmorphism
Patient organizations
- Kniest SED GroupSpondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome · United States
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