Opitz-Kaveggia syndrome
Evidence-based neurology checklist on opitz-kaveggia syndrome: Genetics This is caused by mutations in the MED12 gene The transmission is X-linked Diagnostic triad Dysmorphic features Neurological features Psychiatric features Skeletal features Genitourinary features Other features
Genetics
- This is caused by mutations in the MED12 gene
- The transmission is X-linked
Diagnostic triad
Dysmorphic features
Neurological features
Psychiatric features
Skeletal features
Genitourinary features
Other features
References
- Graham JM Jr, Schwartz CE. MED12 related disorders. Am J Med Genet A 2013; 161A:2734-2740.
- Clark RD, Graham JM Jr, Friez MJ, et al. FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. Genet Med 2009; 11:769-775.
- Zwamborn-Hanssen AM, Schrander-Stumpel CT, Smeets E, Decock P, Fryns JP. FG syndrome: the trias mental retardation, hypotonia and constipation reviewed. Genet Couns 1995; 6:313-319.
- Graham JM Jr, Clark RD, Moeschler JB, Rogers RC. Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome). Am J Med Genet C Semin Med Genet 2010; 154C:477-485.
- Smith JF, Wayment RO, Cartwright PC, Snow BW, Opitz JM. Genitourinary anomalies of pediatric FG syndrome. J Urol 2007; 178:656-659.
Related checklists
- Bannayan-Zonana syndrome (BZS)
- Cole Hughes syndrome
- Lujan Fryns syndrome (LFS)
- Macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome
- Macrocephaly-capillary malformation (M-CM) syndrome
- Megalencephaly polymicrgyria polydactyly hydrocephalus (MPPH) syndrome
- Proteus syndrome
- Simpson-Golabi-Behmel syndrome (SGBS)
- Sotos syndrome (cerebral gigantism)
- CLOVES syndrome
