KEGG   DISEASE: Fronto-Otopalatodigital OsteodysplasiaHelp
H00456                      Disease                                

Fronto-Otopalatodigital Osteodysplasia, including:
Otopalatodigital syndrome, type I;
Otopalatodigital syndrome, type II;
Melnick-Needles syndrome;
Frontometaphyseal dysplasia
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.
Developmental disorder; Skeletal dysplasia
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Skeletal diseases
   H00456  Frontometaphyseal dysplasia
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q65-Q79  Congenital malformations and deformations of the musculoskeletal system
   Q77  Osteochondrodysplasia with defects of growth of tubular bones and spine
    H00456  Melnick-Needles syndrome
   Q78  Other osteochondrodysplasias
    H00456  Frontometaphyseal dysplasia
BRITE hierarchy
FLNA [HSA:2316] [KO:K04437]
Other DBs
PMID:10706363 (description)
Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
PMID:21031081 (gene)
Foley C, Roberts K, Tchrakian N, Morgan T, Fryer A, Robertson SP, Tubridy N
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome.
Mol Syndromol 1:121-126 (2010)

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