[MIM 150 230]

(trichorhinophalangeal type II syndrome, monosomy 8q)

Very rare. Trichorhinophalangeal of type II syndrome is a multisystemic malformative syndrome of varying severity caused by a deletion or a microdeletion of chromosome 8q23.3-q24.13 resulting in the loss of at least one of the TRPS1 and EXT1 genes. 

The deletion of the single TRPS1 gene causes trichorhinophalangeal type I syndrome, whereas the deletion of the single HME gene leads to the hereditary multiple exostoses syndrome. 

Autosomal dominant transmission. Type II includes, depending on the size of the deletion:

-         facial anomalies: bulbous nose, fine and rare hair: large, laterally protruding ears. micrognathia, high-arched palate, malocclusion (1 case of aplasia of the epiglottis!)

-         skeletal abnormalities: clino - and brachydactyly, epiphyses in cone at the level of the phalanges of the hands (RX), often painful multiple cartilaginous exostoses, joint hyperlaxity (especially at the cervical level), short stature, mild scoliosis secondary to vertebral malformations, risk of pathologic fractures

-         microcephaly

-         variable mental retardation

-         epilepsy, cerebral malformations

-         redundant skin

-         hearing disorders

-         frequent urinary (vesico-ureteral reflux) and lung infections.

Anesthetic implications: 

risk of difficult intubation; one case of subglottic stenosis; avoid hyperextension of the neck; mental retardation; risk of lung or urinary infection; epilepsy

References : 

-            Michalek P, Doherty JT, Vesela MM. 
Anesthetic management of a child with Langer-Giedion (TRPS II) syndrome. 
J Anesth 2009; 23: 456-9.

-                 Graybeal LS, Baum VC, Durieux ME. 
Anaesthetic management of a patient with tricho-rhino-phalangeal syndrome. 
Eur J Anaesthesiol 2005; 22: 400-2.

-                 Kumar KR, Dehran M, Rangasamy V, Govindarajan SR. 
Unanticipated subglottic stenosis complicating airway management of a child with Langer-Giedion syndrome. 
Pediatr Anesth 2013; 23: 968-9.

-                Leu S, Valavanis A, Baltsavias G. 
Langer-Giedion syndrome associated with congenital dural arterio-venous fistula. 
Childs Nerv Syst 2015; 801-4.

Updated: February 2019