Living with Short stature-optic atrophy-Pelger-Huët anomaly syndrome
A rare genetic condition with very short height, vision loss from optic nerve damage and facial differences, with typical intelligence.
Understanding Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Children grow slowly after birth and have short limbs, short fingers and a face that can look older than their age. Both optic nerves are damaged, which reduces color vision and sharpness. Intelligence is normal. White blood cells have an unusual shape (Pelger-Huet anomaly). Skin may be loose. Liver failure triggered by fever has occasionally been reported. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth after birth
- Optic atrophy (vision loss)
- Nearsightedness (myopia)
- Bulging eyes
- Loose, inelastic skin
- Low muscle tone (hypotonia)
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in NBAS 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); 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 rare disease patient organizations for support
- 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 lists changes in the NBAS gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: short stature with optic atrophy and pelger-huët anomaly syndrome; short stature, optic nerve atrophy, and pelger-huet anomaly; soph syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Short stature-optic atrophy-Pelger-Huët anomaly syndrome.
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