Opitz GBBB syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome was originally described as two distinct entities, the BBB syndrome with cleft lip, palate and mental retardation, and the G-syndrome characterized by gastrointestinal anomalies. Subsequently, both syndromes were merged and reclassified as Opitz GBBB syndrome. There are two forms of Opitz GBBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The X-linked form is caused by a mutation in the gene MID1 that encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Autosomal dominant form results from a deletion at chromosome 22q11.2.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H00583 Opitz-GBBB syndrome
De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodriguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni G
Title
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.
Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH
Title
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
