Living with Noonan syndrome-like disorder with loose anagen hair
A genetic condition with Noonan-like facial features, sparse and easily pulled hair, heart differences, and developmental delay.
Understanding Noonan syndrome-like disorder with loose anagen hair
Features can include a large head, high forehead, wide-set eyes, drooping eyelids, and low-set ears. Hair is sparse, thin, slow-growing, and easy to pull out. Heart defects are common. Skin may be darkly colored with eczema or scaly skin. Short stature, possibly tied to low growth hormone, and developmental delays can occur. GARD lists onset as during pregnancy, at birth, and as an infant.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sparse scalp hair
- Short stature
- Narrowed pulmonic valve (pulmonic stenosis)
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Webbed neck and low hairline at the back of the neck
- Funnel chest (pectus excavatum)
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, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
RASopathies Network and Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: RASopathies Network, Children's Cardiomyopathy Foundation
- 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 RASopathies Network 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
Changes in the SHOC2 gene cause this condition. It is inherited in an autosomal dominant way, meaning one changed copy of the gene can be enough.
Also known as: mazzanti syndrome; noonan-like syndrome with loose anagen hair; ns/lah; tosti syndrome
Patient organizations
- RASopathies NetworkNoonan syndrome-like disorder with loose anagen hair · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Noonan syndrome-like disorder with loose anagen hair.
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