Melnick-Needles Syndrome malady
Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases categories
Melnick-Needles Syndrome, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
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
Characteristics (Orphanet epidemiological data):47
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
OMIM:45 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 osteodysplasty of melnick and needles, is related to frontometaphyseal dysplasia and otopalatodigital syndrome, type ii, and has symptoms including abnormality of the fontanelles or cranial sutures, hypertelorism and prominent supraorbital ridges. An important gene associated with Melnick-Needles Syndrome is FLNA (filamin A, alpha). Affiliated tissues include bone, kidney and heart.
Genetics Home Reference:21 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:41 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: 11/3/2010
Symptoms by clinical synopsis from OMIM:309350
Clinical features from OMIM:309350
Symptoms:47 (show all 38)
HPO human phenotypes related to Melnick-Needles Syndrome:(show all 79)
MalaCards organs/tissues related to Melnick-Needles Syndrome:31
Bone, Kidney, Heart, Eye, Lung
Articles related to Melnick-Needles Syndrome:(show all 47)
UniProtKB/Swiss-Prot genetic disease variations for Melnick-Needles Syndrome:62
Clinvar genetic disease variations for Melnick-Needles Syndrome:6
Search GEO for disease gene expression data for Melnick-Needles Syndrome.
26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet