Melnick–Needles syndrome
| Melnick–Needles syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 309350 |
| Patient UK | Melnick–Needles syndrome |
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.[1]
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[2][3] 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.[4]
References
See also
<templatestyles src="Asbox/styles.css"></templatestyles>
 |
This article about a disease, disorder, or medical condition is a stub. You can help Wikipedia by expanding it. |
