| Metadata | |
|---|---|
| ID | DOID:0111788 |
| Name | Melnick-Needles syndrome |
| Definition | An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. https://ghr.nlm.nih.gov/condition/melnick-needles-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/12612583, https://www.ncbi.nlm.nih.gov/pubmed/16538226 |
| Xrefs |
MEDDRA:10060908 SNOMEDCT_US_2023_03_01:13449007 |
| Subsets |
DO_rare_slim |
| Synonyms |
Melnick-Needles osteodysplasty [EXACT] MNS [EXACT] osteodysplasty of Melnick and Needles [EXACT] |
| Parent Relationships |