Coffin-Siris syndrome [CSS OMIM #135900] is characterized by developmental delay, coarse facial features, speech impairment, hypertrichosis, hypoplastic or absent fifth fingernails or toenails, and agenesis of the corpus callosum. Other findings can include failure to thrive, feeding difficulties, short stature, ophthalmologic abnormalities, microcephaly and hearing loss. There are several conditions that exhibit significant overlap with Coffin-Siris syndrome, including Nicolaides-Baraitser syndrome (NCBRS), DOORS syndrome, KBG syndrome, and ADNP-related autism/ID. NCBRS has significant phenotypic overlap with CSS, including intellectual disability, speech impairment, sparse scalp hair, and short stature. Patients with NCBRS typically present with prominent finger joints. DOORS syndrome (deafness, osteodystrophy, mental retardation, and seizures) syndrome is characterized by sensorineural deafness, shortened terminal phalanges with small fingernails and toenails, intellectual disability, and seizures. KBG syndrome is characterized by macrodontia of the upper incisors, short stature, skeletal anomalies, and intellectual disability.
Our Coffin-Siris Syndrome Sequencing Panel includes analysis for all of the following 11 genes: ADNP, ANKRD11, ARID1A, ARID1B, PHF6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SOX11, TBC1D24.
Any gene in the Coffin-Siris syndrome panel can also be ordered individually. Please contact us directly for cost and CPT code information.