Melnick–Needles syndrome: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Melnick–Needles syndrome | |||
| image = [[File:X-linked_dominant_(affected_mother).svg|200px]] | |||
| caption = Melnick–Needles syndrome is inherited in an [[X-linked dominant]] manner | |||
| synonyms = MNS | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Skeletal dysplasia]], [[craniofacial dysmorphism]], [[hearing loss]] | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| causes = Mutations in the [[FLNA]] gene | |||
| risks = | |||
| diagnosis = [[Clinical evaluation]], [[genetic testing]] | |||
| differential = [[Osteogenesis imperfecta]], [[frontometaphyseal dysplasia]] | |||
| treatment = [[Symptomatic treatment]], [[orthopedic surgery]] | |||
| medication = | |||
| prognosis = Variable, depending on severity | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Melnick–Needles syndrome''' (MNS) is a rare [[genetic disorder]] characterized by distinctive skeletal abnormalities and other physical features. It was first described in 1966 by American physicians Joel Melnick and Robert Needles. | '''Melnick–Needles syndrome''' (MNS) is a rare [[genetic disorder]] characterized by distinctive skeletal abnormalities and other physical features. It was first described in 1966 by American physicians Joel Melnick and Robert Needles. | ||
==Etymology== | ==Etymology== | ||
The syndrome is named after the physicians Joel Melnick and Robert Needles who first described the condition in 1966. | The syndrome is named after the physicians Joel Melnick and Robert Needles who first described the condition in 1966. | ||
==Signs and Symptoms== | ==Signs and Symptoms== | ||
People with Melnick–Needles syndrome often have a characteristic facial appearance that includes a prominent forehead ([[frontal bossing]]), widely spaced eyes ([[hypertelorism]]), full cheeks, and a pointed chin. Other features can include hearing loss, eye abnormalities, and respiratory problems. | People with Melnick–Needles syndrome often have a characteristic facial appearance that includes a prominent forehead ([[frontal bossing]]), widely spaced eyes ([[hypertelorism]]), full cheeks, and a pointed chin. Other features can include hearing loss, eye abnormalities, and respiratory problems. | ||
==Causes== | ==Causes== | ||
Melnick–Needles syndrome is caused by mutations in the [[FLNA]] gene. This gene provides instructions for making a protein called filamin A, which helps build the network of protein filaments ([[cytoskeleton]]) that gives structure to cells and allows them to change shape and move. | Melnick–Needles syndrome is caused by mutations in the [[FLNA]] gene. This gene provides instructions for making a protein called filamin A, which helps build the network of protein filaments ([[cytoskeleton]]) that gives structure to cells and allows them to change shape and move. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of Melnick–Needles syndrome is based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis. | Diagnosis of Melnick–Needles syndrome is based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis. | ||
==Treatment== | ==Treatment== | ||
Treatment of Melnick–Needles syndrome is symptomatic and supportive. It may include physical therapy, surgery to correct bone abnormalities, and regular monitoring for potential complications. | Treatment of Melnick–Needles syndrome is symptomatic and supportive. It may include physical therapy, surgery to correct bone abnormalities, and regular monitoring for potential complications. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with Melnick–Needles syndrome varies. Some individuals have a normal lifespan, while others may have life-threatening complications. | The prognosis for individuals with Melnick–Needles syndrome varies. Some individuals have a normal lifespan, while others may have life-threatening complications. | ||
==Epidemiology== | ==Epidemiology== | ||
Melnick–Needles syndrome is a rare disorder. The exact prevalence is unknown. | Melnick–Needles syndrome is a rare disorder. The exact prevalence is unknown. | ||
==See Also== | ==See Also== | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[FLNA]] | * [[FLNA]] | ||
* [[Cytoskeleton]] | * [[Cytoskeleton]] | ||
==References== | ==References== | ||
<references /> | <references /> | ||
==External Links== | ==External Links== | ||
* [https://ghr.nlm.nih.gov/condition/melnick-needles-syndrome Melnick-Needles syndrome] on Genetics Home Reference | * [https://ghr.nlm.nih.gov/condition/melnick-needles-syndrome Melnick-Needles syndrome] on Genetics Home Reference | ||
* [https://rarediseases.info.nih.gov/diseases/7051/melnick-needles-syndrome Melnick-Needles syndrome] on National Organization for Rare Disorders | * [https://rarediseases.info.nih.gov/diseases/7051/melnick-needles-syndrome Melnick-Needles syndrome] on National Organization for Rare Disorders | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 21:45, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
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| Melnick–Needles syndrome | |
|---|---|
.svg)
| |
| Synonyms | MNS |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Skeletal dysplasia, craniofacial dysmorphism, hearing loss |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the FLNA gene |
| Risks | |
| Diagnosis | Clinical evaluation, genetic testing |
| Differential diagnosis | Osteogenesis imperfecta, frontometaphyseal dysplasia |
| Prevention | N/A |
| Treatment | Symptomatic treatment, orthopedic surgery |
| Medication | |
| Prognosis | Variable, depending on severity |
| Frequency | Rare |
| Deaths | |
Melnick–Needles syndrome (MNS) is a rare genetic disorder characterized by distinctive skeletal abnormalities and other physical features. It was first described in 1966 by American physicians Joel Melnick and Robert Needles.
Etymology[edit]
The syndrome is named after the physicians Joel Melnick and Robert Needles who first described the condition in 1966.
Signs and Symptoms[edit]
People with Melnick–Needles syndrome often have a characteristic facial appearance that includes a prominent forehead (frontal bossing), widely spaced eyes (hypertelorism), full cheeks, and a pointed chin. Other features can include hearing loss, eye abnormalities, and respiratory problems.
Causes[edit]
Melnick–Needles syndrome is caused by mutations in the FLNA gene. This gene provides instructions for making a protein called filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move.
Diagnosis[edit]
Diagnosis of Melnick–Needles syndrome is based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.
Treatment[edit]
Treatment of Melnick–Needles syndrome is symptomatic and supportive. It may include physical therapy, surgery to correct bone abnormalities, and regular monitoring for potential complications.
Prognosis[edit]
The prognosis for individuals with Melnick–Needles syndrome varies. Some individuals have a normal lifespan, while others may have life-threatening complications.
Epidemiology[edit]
Melnick–Needles syndrome is a rare disorder. The exact prevalence is unknown.
See Also[edit]
References[edit]
<references />
External Links[edit]
- Melnick-Needles syndrome on Genetics Home Reference
- Melnick-Needles syndrome on National Organization for Rare Disorders
