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Disease Profile
Melnick-Needles syndrome
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.
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Age of onset
Childhood
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Melnick-Needles osteodysplasty; MNS; Osteodysplasty of Melnick and Needles
Categories
Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases;
Summary
Melnick-Needles
Symptoms
People with this condition usually have
- 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).
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 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
Diagnosis Melnick-Needles
Testing Resources
TreatmentThere is no cure for Melnick-Needles
Learn moreThese 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
In-Depth Information
Selected Full-Text Journal Articles
References
Rare Neurology News |