Living with Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
A rare bone condition with sparse hair from birth, short stature, and distinct X-ray findings.
Understanding Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
Babies are born with less hair than usual (hypotrichosis). Short stature is more noticeable in the upper arms and thighs. Hip movement may be limited, and the knees may bow outward a little. X-rays show irregular bone ends and pear-shaped spine bones. GARD notes no further descriptions in the literature since 1990.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes:
- Sparse hair from birth
- Short stature, mostly in upper limbs
- Limited hip movement
- Mild bowing of the legs (genu varum)
- Irregular bone ends on X-ray
- Pear-shaped 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 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. GARD doesn't list which gene.
Also known as: spondyloepimetaphyseal dysplasia with hypotrichosis; spondyloepimetaphyseal dysplasia, hypotrichosis syndrome; whyte syndrome
Patient organizations
- Kniest SED GroupSpondyloepimetaphyseal dysplasia-hypotrichosis syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome.
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