Melnick-Needles Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases
Aliases & Descriptions for Melnick-Needles Syndrome:
Orphanet epidemiological data:51
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Bone diseases
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis
OMIM:49 Melnick-Needles syndrome is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. These disorders,... (309350) more...
MalaCards based summary: Melnick-Needles Syndrome, also known as mns, is related to otopalatodigital syndrome, type ii and otopalatodigital syndrome, type i, and has symptoms including long toe, short thorax and short stature. An important gene associated with Melnick-Needles Syndrome is FLNA (Filamin A). Affiliated tissues include bone, kidney and heart.
Genetics Home Reference:23 Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and frontometaphyseal dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits).
NIH Rare Diseases:45 Melnick-needles syndrome is a rare disorder involving abnormalities in skeletal development and other health problems. it is a member of a group of related conditions called otopalatodigital spectrum disorders, which typically involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits). melnick-needles syndrome is usually the most severe of the otopalatodigital spectrum disorders. this condition is caused by a mutation in the flna gene, and it has x-linked dominant inheritance. last updated: 4/30/2015
UniProtKB/Swiss-Prot:67 Melnick-Needles syndrome: Severe congenital bone disorder characterized by typical facies (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.
Symptoms by clinical synopsis from OMIM:309350
Clinical features from OMIM:309350
Symptoms:51 (show all 38)
HPO human phenotypes related to Melnick-Needles Syndrome:(show all 77)
UMLS symptoms related to Melnick-Needles Syndrome:hoarseness
MalaCards organs/tissues related to Melnick-Needles Syndrome:33
Bone, Kidney, Heart, Eye, Lung, Prostate, Endothelial
Articles related to Melnick-Needles Syndrome:(show all 47)
UniProtKB/Swiss-Prot genetic disease variations for Melnick-Needles Syndrome:67
Clinvar genetic disease variations for Melnick-Needles Syndrome:5
Search GEO for disease gene expression data for Melnick-Needles Syndrome.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet