Living with Linear skin defects with multiple congenital anomalies
A genetic condition, mostly in females, with small or underdeveloped eyes and linear skin markings on the head and neck.
Understanding Linear skin defects with multiple congenital anomalies
It is mainly found in females. Features are small or poorly developed eyes and linear skin markings on the head and neck. It may also involve the brain, heart, and urogenital system, short stature, developmental delay, and nail changes. It is noticed in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small or poorly developed eyes
- Linear skin markings on the head and neck
- Heart differences
- Irregular heartbeat
- Changes in facial shape
- Skin pigment differences
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, digestive 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.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); 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 Children's Skin Disease Foundation
- 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 typically caused by a deletion on the short arm of the X chromosome or a change in the HCCS gene. Sometimes it is caused by changes in the COX7B or NDUFB11 genes. It is inherited in an X-linked way.
Also known as: linear skin defects with multiple congenital anomalies type 1; mcops7; microphthalmia with linear skin defects syndrome; microphthalmia-dermal aplasia-sclerocornea syndrome; midas syndrome; mls syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Linear skin defects with multiple congenital anomalies.
Explore research for Linear skin defects with multiple congenital anomalies
Explore actively recruiting Linear skin defects with multiple congenital anomalies studies with HealthSpark.
Find actively recruiting studies for Linear skin defects with multiple congenital anomalies with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Linear skin defects with multiple congenital anomalies studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Linear skin defects with multiple congenital anomalies
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Linear skin defects with multiple congenital anomalies experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.