[MIM 135 900, 614 562, 614 607, 614 608, 614 609]

(Fifth digit syndrome, dwarfism with onychodysplasia)

Very rare. Probably autosomal recessive transmission, but cases of dominant transmission and sporadic cases have been reported. Mutation of one of the genes: ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1. Occurs predominantly in girls (4:1). 

Association of:

-         mental and growth retardation. 

-         clinodactyly with absence of nail or hypoplasia of the terminal phalanx of the 5th finger and the 5th toe

-         hypotonia, coarse facial features, micrognathia, macroglossia, abnormal ears, microcephaly, thick eyebrows

-         frequent respiratory infections, feeding difficulties

-         sometimes: cleft palate, choanal atresia, cardiac disease, spina bifida occulta, scoliosis, Dandy-Walker malformation (see this term), agenesis of corpus callosum 

Anesthetic implications: 

risk of difficult intubation, which increases with age; risk of post-anesthesia apneas; mental retardation; plan a X-ray of the vertebral column before neuraxial block.

References : 

-        Silvani P, Camporesi A, Zoia E, Leoncino S, Salvo I. 
Anesthetic management in a child with Coffin-Siris syndrome. 
Pediatr Anesth 2004; 698-700. 

-        Dimaculangan DP, Lakhandwala BS, Wlady DJ, Gross RM.
Difficult airway in a patient with Coffin-Siris syndrome.
Anesth Analg 2001; 92: 544-5.

-        Ozkan AS, Akbas S, Yalin MR, Ozdemir E, Koyly Z.
Successful difficult airway management of a child with Coffin-Siris syndrome.
Clin Case Reports 2017; 1312-4

-        Hollander N, ten Tusscher GW.
Coffin–Siris syndrome: clinical description of two cases.
Clin Case Rep. 2022;10:e06598. doi:10.1002/ccr3.6598 

-        Divakar D, Ubale P, Gujjar P.
Anesthetic management of a patient with Coffin-Siris syndrome.
Res Inno in Anesth 2019;4 :16-8.

-        Prabhakar P, Chandran SD, Tembhurne SA, Mathew A, Rai E.
Coffin–Siris syndrome and delayed emergence—Is this an unusual or unknown anesthetic complication?
Pediatr Anesth. 2024;00:1-2. doi:10.1111/pan.14892

and comments: Camporesi A, Silvani P. Coffin-Siris syndrome and apneas. Comment on “Coffin– Siris syndrome and delayed emergence. Pediatr Anesth. 2024; in press

Updated: May 2024