IllnessCoffin-Siris syndrome, differential diagnosis

NGS +

Coffin-Siris Syndrome (CSS) is a rare congenital genetic multisystem disorder with hypo-/aplasia of the distal phalanx/nail of the 5th toe and/or 5th finger, developmental delays, gross facial features, hypotension, microcephaly and other malformations and heart defects. 65-80% of newborns are conspicuous with nail dysplasia. In some cases, inheritance is autosomal dominant, although new mutations are usually responsible. In at least 60% of clinically proven cases, mutations are detected in extensive panel approaches.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK131811/

• DD Cornelia de Lange syndrome (NIPBL, SMC1A, SMC3, HDAC8, RAD21)
• Sy: Hypoplastic/absent 5.th finger-/toenails; poor overall growth, craniofacial abnormalities
• Sy: Ment. retard., coarse face, hypertrichosis, sparse hair; spinal anomalies + cong. heart defects
• Allelic: Blepharophimosis-impaired intellectual development syndrome (SMARCA2)
• Allelic: Deafness, AD 65 (TBC1D24)
• Allelic: Deafness, AR 86 (TBC1D24)
• Allelic: Developmental + epileptic encephalopathy 16 (TBC1D24)
• Allelic: Epilepsy, rolandic, with proxysmal exercise-induce dystonia + writer's cramp (TBC1D24)
• Allelic: Meningioma, familial, susceptibility to (SMARCE1)
• Allelic: Myoclonic epilepsy, infantile, familial (TBC1D24)
• Allelic: Rhabdoid tumors, somatic (SMARCB1)
• Allelic: Schwannomatosis-1, susceptibility to (SMARCB1)
• Borjeson-[Forssman-Lehmann] syndrome; Mental retardation, epilepsy, endocrine disorders (PHF6)
• Coffin-Siris syndrome 1 (ARID1B)
• Coffin-Siris syndrome 10 (SOX4)
• Coffin-Siris syndrome 11 (SMARCD1)
• Coffin-Siris syndrome 12 (BICRA)
• Coffin-Siris syndrome 2 (ARID1A)
• Coffin-Siris syndrome 3 (SMARCB1)
• Coffin-Siris syndrome 4 (SMARCA4)
• Coffin-Siris syndrome 5 (SMARCE1)
• Coffin-Siris syndrome 6; ARID2-Coffin-Siris like disorder; CS syndrome-like phenotype (ARID2)
• Coffin-Siris syndrome 7; Coffin-Siris like disorder (DPF2)
• Coffin-Siris syndrome 8 (SMARCC2)
• Coffin-Siris syndrome 9 (SOX11)
• DOORS syndrome, Deafness, Onychodystrophy, Osteodystrophy, ment. Retardation (TBC1D24)
• Developmental delay, ID [panelapp] (ACTL6A)
• Hyperphosphatasia with mental retardation syndrome 1 (PIGV)
• Nicolaides-Baraitser syndrome (SMARCA2)
• Rhabdoid tumor predisposition syndrome 1-2 (SMARCB1, SMARCA4)