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
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD25 Syndromes with face or limb anomalies as a major feature
H00456 Fronto-otopalatodigital syndromes
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H00456 Fronto-otopalatodigital syndromes
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.
Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting the long bones and skull. The cause of FMD in some individuals is mutations in the X-linked gene, FLNA. Recently, it has been reported that mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause FMD.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD25 Syndromes with face or limb anomalies as a major feature
H02227 Frontometaphyseal dysplasia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H02227 Frontometaphyseal dysplasia
Robertson SP, Jenkins ZA, Morgan T, Ades L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Minaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Mancini G, Illes T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO, Krakow D
Title
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Ades LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP
Title
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
