Living with Melnick-Needles syndrome
An inherited bone condition with short stature, curved spine, long fingers, and distinct facial features.
Understanding Melnick-Needles syndrome
It belongs to the otopalatodigital spectrum disorders, which involve hearing loss, palate differences, and finger or toe bone differences. It is usually the most severe of this group. People are usually short and may have scoliosis, bowed limbs, and long fingers and toes. Males usually have more severe signs than females.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Curved spine (scoliosis)
- Bowed long bones
- Bulging eyes and prominent brow
- Small lower jaw (micrognathia)
- Hearing loss and loose joints
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in FLNA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 rare disease patient organizations for support
- 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 FLNA gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: melnick needles syndrome; melnick-needles osteodysplasty; melnick-needles syndrome, x-linked dominant; mns; osteodysplasty; osteodysplasty of melnick and needles
Patient organizations
Rare-disease groups that can help
- 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 Melnick-Needles syndrome.
Explore research for Melnick-Needles syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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