Living with Seckel syndrome 7
A rare genetic form of very small stature with a very small head, developmental delay, and severe intellectual disability.
Understanding Seckel syndrome 7
It causes severe slow growth before and after birth, a severe small head size, severe developmental delay, intellectual disability, and short adult height. Facial features include close-set eyes, small ears, and a prominent nose. Bone differences and seizures have been reported. Breast development and periods may not start.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe slow growth before and after birth
- Very small head size (microcephaly)
- Severe intellectual disability
- Seizures
- Hip and wrist bone differences
- No periods (primary amenorrhea)
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in NIN 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
- Brain and nervous system specialists (neurologists); 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 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 NIN gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: microcephalic primordial dwarfism, dauber type; nin seckel syndrome; sckl7; seckel syndrome caused by mutation in nin; seckel syndrome type 7
Patient organizations
- Little People of AmericaSeckel syndrome 7 · United States
- Children's Craniofacial AssociationSeckel syndrome 7 · United States
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Perspectives from people navigating life with Seckel syndrome 7.
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