Living with Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
A rare genetic bone condition with very short height, facial differences, thin hair and small nails.
Understanding Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Growth is slow before and after birth. People have sparse, short hair and small fingernails. Small hands with tapering fingers, a high-pitched voice and a long, triangular face with a tall forehead are also common. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very short stature
- Small for gestational age at birth
- Poor weight gain (failure to thrive)
- Global developmental delay
- Small hands and feet
- Triangular face with high forehead
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.
- 3Consider genetic testing
Changes in POC1A 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); 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 lists changes in the POC1A gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: short stature, onychodysplasia, facial dysmorphism, and hypotrichosis; short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome; soft (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome; soft syndrome
Patient organizations
- Little People of AmericaShort stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome.
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