Melnick–Needles syndrome (MNS), also known as Melnick–Needles osteodysplasty, is an extremely rare congenital disorder that affects primarily bone development. Patients with Melnick–Needles syndrome have typical faces (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull. In males, the disorder is nearly always lethal in infancy. Lifespan of female patients might not be affected.
| Attributes | Values |
|---|
| rdf:type
| |
| rdfs:label
| - Melnick-Needles-Syndrom (de)
- Syndrome de Melnick-Needles (fr)
- Sindrome di Melnick-Needles (it)
- Melnick–Needles syndrome (en)
|
| rdfs:comment
| - Das Melnick-Needles-Syndrom (MNS) ist eine sehr seltene, zum Spektrum des Oto-palato-digitales Syndroms gehörende angeborene Skelettdysplasie mit charakteristischen körperlichen Auffälligkeiten und Veränderungen der langen Röhrenknochen und des Schädels. Synonyme sind: Osteodysplastie; Osteodysplastie Typ Melnick-Needles; Osteodysplasie Typ Melnick-Needles Die Bezeichnung bezieht sich auf den Erstautor der Erstbeschreibung aus dem Jahre 1966 durch den US-amerikanischen Radiologen John Charles Melnick (* 1928) und den Kinderarzt Carl F. Needles (* 1935). (de)
- Le syndrome de Melnick-Needles fait partie du spectre phénotypique des ostéodysplasies fronto-oto-palato-digitales. (fr)
- Melnick–Needles syndrome (MNS), also known as Melnick–Needles osteodysplasty, is an extremely rare congenital disorder that affects primarily bone development. Patients with Melnick–Needles syndrome have typical faces (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull. In males, the disorder is nearly always lethal in infancy. Lifespan of female patients might not be affected. (en)
- La sindrome di Melnick-Needles, conosciuta anche come osteodisplasia di Melnick-Needles è una malattia congenita estremamente rara, con meno di 70 casi documentati, descritta per la prima volta da John C. Melnick e Carl F. Needles nel 1966. Si presenta con esoftalmo, micrognazia e scorretto allineamento dentale, curvatura ad S dei muscoli delle gambe, sclerosi alla base del cranio. Nei maschi, la malattia è quasi sempre letale, mentre nelle femmine, la speranza di vita non sembra influenzata dalla malattia. Lo sviluppo mentale è normale. (it)
|
| foaf:name
| - Melnick–Needles syndrome (en)
|
| name
| - Melnick–Needles syndrome (en)
|
| foaf:depiction
| |
| dcterms:subject
| |
| Wikipage page ID
| |
| Wikipage revision ID
| |
| Link from a Wikipage to another Wikipage
| |
| sameAs
| |
| dbp:wikiPageUsesTemplate
| |
| thumbnail
| |
| ICD
| |
| OMIM
| |
| Orphanet
| |
| caption
| - This condition is inherited in an X-linked dominant manner. (en)
|
| synonyms
| - Melnick–Needles osteodysplasty (en)
|
| has abstract
| - Das Melnick-Needles-Syndrom (MNS) ist eine sehr seltene, zum Spektrum des Oto-palato-digitales Syndroms gehörende angeborene Skelettdysplasie mit charakteristischen körperlichen Auffälligkeiten und Veränderungen der langen Röhrenknochen und des Schädels. Synonyme sind: Osteodysplastie; Osteodysplastie Typ Melnick-Needles; Osteodysplasie Typ Melnick-Needles Die Bezeichnung bezieht sich auf den Erstautor der Erstbeschreibung aus dem Jahre 1966 durch den US-amerikanischen Radiologen John Charles Melnick (* 1928) und den Kinderarzt Carl F. Needles (* 1935). (de)
- Le syndrome de Melnick-Needles fait partie du spectre phénotypique des ostéodysplasies fronto-oto-palato-digitales. (fr)
- Melnick–Needles syndrome (MNS), also known as Melnick–Needles osteodysplasty, is an extremely rare congenital disorder that affects primarily bone development. Patients with Melnick–Needles syndrome have typical faces (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull. In males, the disorder is nearly always lethal in infancy. Lifespan of female patients might not be affected. Melnick–Needles syndrome is associated with mutations in the FLNA gene and is inherited in an X-linked dominant manner. As with many genetic disorders, there is no known cure to MNS. The disorder was first described by John C. Melnick and Carl F. Needles in 1966 in two multi-generational families. (en)
- La sindrome di Melnick-Needles, conosciuta anche come osteodisplasia di Melnick-Needles è una malattia congenita estremamente rara, con meno di 70 casi documentati, descritta per la prima volta da John C. Melnick e Carl F. Needles nel 1966. Si presenta con esoftalmo, micrognazia e scorretto allineamento dentale, curvatura ad S dei muscoli delle gambe, sclerosi alla base del cranio. Nei maschi, la malattia è quasi sempre letale, mentre nelle femmine, la speranza di vita non sembra influenzata dalla malattia. Lo sviluppo mentale è normale. La sindrome di Melnick–Needles è associata a mutazioni del gene e viene trasmessa per ereditarietà dominante legata al cromosoma X. Come per molte malattie genetiche, non vi è una cura nota. (it)
|
| differential
| |
| prov:wasDerivedFrom
| |
| page length (characters) of wiki page
| |
| differential diagnosis
| |
| ICD10
| |
| OMIM id
| |
| ORPHA
| |
| foaf:isPrimaryTopicOf
| |
| is Link from a Wikipage to another Wikipage
of | |
.svg)
![[RDF Data]](/fct/images/sw-rdf-blue.png)
![[cxml]](/fct/images/cxml_doc.png)
![[csv]](/fct/images/csv_doc.png)
![[text]](/fct/images/ntriples_doc.png)
![[turtle]](/fct/images/n3turtle_doc.png)
![[ld+json]](/fct/images/jsonld_doc.png)
![[rdf+json]](/fct/images/json_doc.png)
![[rdf+xml]](/fct/images/xml_doc.png)
![[atom+xml]](/fct/images/atom_doc.png)
![[html]](/fct/images/html_doc.png)
