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Disease Profile

Melnick-Needles syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

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ICD-10

Q77.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Melnick-Needles osteodysplasty; MNS; Osteodysplasty of Melnick and Needles

Categories

Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases;

Summary

Melnick-Needles syndrome is a rare disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which typically involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits). Melnick-Needles syndrome is usually the most severe of the otopalatodigital spectrum disorders and males with this condition generally have more severe signs and symptoms than females. In almost all instances, males with Melnick-Needles syndrome die before or soon after birth. The signs and symptoms of this condition may include: short stature, various skeletal abnormalities, characteristic facial features, and abnormalities of the heart and/or kidneys. This condition is caused by mutations in the FLNA gene, and it is inherited in an X-linked dominant manner. Although there is no specific treatment or cure for Melnick-Needles syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person.[1][2][3]

Symptoms

People with this condition usually have short stature and unusually long fingers and toes. They may additionally have certain skeletal abnormalities including:

  • Partial dislocation (subluxation) of certain joints
  • Abnormal curvature of the spine (scoliosis)
  • Bowed limbs
  • Underdeveloped, irregular ribs that can cause problems with breathing
  • Other abnormal or absent bones

Characteristic facial features may include:

  • Bulging eyes (proptosis) with prominent brow ridges
  • Excess hair growth on the forehead
  • Round cheeks
  • A very small lower jaw and chin (micrognathia)
  • Misaligned teeth
  • One side of the face that appears noticeably different from the other (facial asymmetry).

Hearing loss is common with this condition and can be either sensorineural or conductive. Intelligence is usually normal.[1][2]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal cortical bone morphology
0003103
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Bowing of the long bones
Bowed long bones
Bowing of long bones

[ more ]

0006487
Delayed cranial suture closure
0000270
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Prominent supraorbital ridges
Prominent brow
0000336
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Short stature
Decreased body height
Small stature

[ more ]

0004322
Short thorax
Shorter than typical length between neck and abdomen
0010306
30%-79% of people have these symptoms
Abnormal cardiac septum morphology
0001671
Abnormality of the pubic bone
Abnormality of the pubic bones
Abnormality of the pubis

[ more ]

0003172
Abnormality of the ribs
Rib abnormalities
0000772
Anisospondyly
0002879
Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped end part of finger bones
0010230
Coxa valga
0002673
Craniofacial hyperostosis
Excessive bone growth of the skull and face
0004493
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face

[ more ]

0000324
Frontal bossing
0002007
Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks

[ more ]

0000293
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hip dislocation
Dislocated hips
Dislocation of hip

[ more ]

0002827
Hydronephrosis
0000126
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Misalignment of teeth
Abnormal dental position
Abnormal teeth spacing
Abnormality of alignment of teeth
Abnormality of teeth spacing
Crooked teeth
Malaligned teeth
Malposition of teeth
Malpositioned teeth

[ more ]

0000692
Osteolytic defects of the phalanges of the hand
Breakdown of small bones of fingers
0009771
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Scoliosis
0002650
Short clavicles
Short collarbone
0000894
Short distal phalanx of finger
Short outermost finger bone
0009882
Vesicoureteral reflux
0000076
5%-29% of people have these symptoms
Omphalocele
0001539
Respiratory insufficiency
Respiratory impairment
0002093
Percent of people who have these symptoms is not available through HPO
Anterior concavity of thoracic vertebrae
0004611
Cleft palate
Cleft roof of mouth
0000175
Coarse hair
Coarse hair texture
0002208
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Flared metaphysis
Flared wide portion of long bone
0003015
Frontal hirsutism
Hairy forehead
0011335
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

0001288
Genu valgum
Knock knees
0002857
Hoarse voice
Hoarseness
Husky voice

[ more ]

0001609
Hypoplastic scapulae
Small shoulder blade
0000882
Kyphoscoliosis
0002751
Limited elbow extension
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension

[ more ]

0001377
Long neck
Elongated neck
Increased length of neck

[ more ]

0000472
Macrotia
Large ears
0000400
Mitral valve prolapse
0001634
Motor delay
0001270
Obtuse angle of mandible
0005446
Pectus excavatum
Funnel chest
0000767
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Pulmonary arterial

Cause

Melnick-Needles syndrome is caused by a change (mutation) in the FLNA gene. When the FLNA gene is working correctly, it provides instructions for producing a protein called filamin A, which is needed to help other proteins and to give structure to cells and allow them to change shape and move. When the FLNA gene has a mutation that causes Melnick-Needles syndrome, the mutation instructs the cell to enhance the activity of the filamin A protein or give the protein a new function. Researchers believe that the mutations may change the way the filamin A protein helps regulate processes involved in skeletal development, but it is not known how changes in the protein relate to the specific signs and symptoms of Melnick-Needles syndrome.[1]

Diagnosis

Melnick-Needles syndrome and other forms of otopalatodigital (OPD) spectrum disorders are diagnosed based on a combination of clinical examination, radiologic studies (such as X-rays), family history consistent with X-linked inheritance, and genetic testing.[2]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment

There is no cure for Melnick-Needles syndrome. Treatment typically involves a team of specialists and focuses on addressing the symptoms of the condition, which may include:[2] 

  • Hearing aids 
  • Cosmetic surgery as desired to correct characteristic facial features
  • Orthopedic surgery to correct scoliosis and other bone abnormalities
  • The use of continuous positive airway pressure (CPAP) and mandibular distraction (surgery to increase the size of the jaw) for individuals with severe micrognathia and tracheobronchomalacia

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Melnick-Needles syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Melnick-Needles syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

References

  1. Melnick-Needles syndrome. Genetics Home Reference. November 2007; https://ghr.nlm.nih.gov/condition/melnick-needles-syndrome.
  2. Robertson SP. Otopalatodigital Spectrum Disorders. GeneReviews. May 2, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1393/.
  3. Robertson S. Melnick-Needles syndrome. Orphanet. May 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484.

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