Melnick-Needles syndrome

Term ID

DOID:0111788

Synonyms

• Melnick-Needles osteodysplasty
• MNS
• osteodysplasty of Melnick and Needles

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. (3)

References

• GARD:7011
• MEDDRA:10060908
• MESH:D010009
• MIM:309350
• ORDO:1826
• SNOMEDCT_US_2023_03_01:13449007
• UMLS_CUI:C0025237

Ontology

Human Disease   ( DOID:0111788 )