loading...| Preferred Name | Melnick-Needles syndrome | |
| Synonyms |
Melnick-Needles osteodysplasty |
|
| Definitions |
Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2484 |
|
| alternative_term |
Melnick-Needles osteodysplasty |
|
| definition |
Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2484 |
|
| has_age_of_onset |
Childhood |
|
| has_inheritance |
X-linked dominant |
|
| hasDbXref |
UMLS:C0025237 ICD-11:LD25.1 ICD-10:Q77.8 OMIM:309350 MedDRA:10060908 |
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| label |
Melnick-Needles syndrome |
|
| notation |
ORPHA:2484 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_519296 http://www.orpha.net/ORDO/Orphanet_522536 http://www.orpha.net/ORDO/Orphanet_364541 http://www.orpha.net/ORDO/Orphanet_102285 |
|
| prefixIRI |
ORDO:Orphanet_2484 |
|
| prefLabel |
Melnick-Needles syndrome |
|
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 70.0 (Case) |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_519296 http://www.orpha.net/ORDO/Orphanet_522536 http://www.orpha.net/ORDO/Orphanet_364541 http://www.orpha.net/ORDO/Orphanet_102285 |
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| subClassOf |