KEGG   DISEASE: H00456Help
Entry
H00456                      Disease                                

Name
Fronto-Otopalatodigital Osteodysplasia, including:
Otopalatodigital syndrome, type I;
Otopalatodigital syndrome, type II;
Melnick-Needles syndrome;
Frontometaphyseal dysplasia
Description
Fronto-Otopalatodigital Osteodysplasia comprises four disorders that arise from missense mutations in FLNA encoding the actin-binding cytoskeletal protein filamin A. The disorders are inherited in X-linked fashion and characterized by a typical facial appearance and generalized osteodysplasia.
Category
Skeletal dysplasia; Developmental disorder
BRITE hierarchy
Gene
FLNA [HSA:2316] [KO:K04437]
Other DBs
Reference
PMID:10706363 (description)
  Authors
Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E
  Title
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
  Journal
Am J Med Genet 90:407-22 (2000)
Reference
PMID:21031081 (gene)
  Authors
Foley C, Roberts K, Tchrakian N, Morgan T, Fryer A, Robertson SP, Tubridy N
  Title
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome.
  Journal
Mol Syndromol 1:121-126 (2010)

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