Living with Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
A rare bone growth condition with very short height, brain differences causing seizures and delays, and thick dark skin patches.
Understanding Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Everyone with it has extremely short stature with especially short arms and legs. Other features include bowed leg bones, a small chest with short ribs, short broad fingers, and skin folds. Brain differences cause seizures and profound developmental delay and intellectual disability. Some have had breathing pauses (apnea). Acanthosis nigricans (thick, dark, velvety skin) develops in infancy or early childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extremely short stature with short arms and legs
- Bowed leg bones
- Severe developmental delay and intellectual disability
- Seizures
- Thick, dark, velvety skin (acanthosis nigricans)
- Small head size (microcephaly)
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, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in FGFR3 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); Skin, hair, and nail specialists (dermatologists)
- 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 and other patient organizations
- 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
It is caused by changes in the FGFR3 gene. It is autosomal dominant, so one changed copy of the gene can be enough.
Also known as: saddan; saddan dysplasia; severe achondroplasia with developmental delay and acanthosis nigricans
Patient organizations
- Little People of AmericaSevere achondroplasia-developmental delay-acanthosis nigricans syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
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Perspectives from people navigating life with Severe achondroplasia-developmental delay-acanthosis nigricans syndrome.
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