[MIM 135 750]

Very rare. Part of the group of the complex polydactylies. Probably autosomal dominant transmission of a mutation of the LMBR1 gene on 7q36.3.

Association of:

-        mirror syndactyly: supernumerary fingers/toes symmetrically organized around a central axis of the 4 extremities with polydactyly: flexion of the fingers produces cup-shaped or mittened hands; there is often hypoplasia or aplasia of the thumb or great toe, or a triphalangeal thumb. Carpal and tarsal bone anomalies. Club feet.

-        mesomelic limb anomalies (especially lower limbs): bilateral duplication of fibula and ulna, often associated with absence or bilateral hypoplasia of tibia and/or radius.

-        nasal malformation: groove along the columella, hypoplasia of the  nasal wings, flattened nose, bulbous nasal tip, wide or abnormal nostrils, with redundant soft tissues

-        rarely (<30 %): aplasia/hypoplasia of corpus callosum, hypertelorism, hydrocephalus, hypotonia, intellectual disability.

If only one side of the body is affected, the syndrome is identified as 'segmental Laurin-Sandrow syndrome'.

A distinction is made between

-        type I or severe form: nasal anomalies that make breathing difficult and require intervention in early childhood; very disabling limb anomalies that require several interventions

-        type II or moderate form: nasal anomalies that do not hinder breathing; very disabling limb anomalies that require several operations in early childhood

-        type III or mild form: mainly cosmetic nasal anomalies that do not hinder breathing; limb anomalies that can be corrected in a single operation.

Anesthetic implications:

nasal obstruction, risk of difficult face-mask ventilation; difficult peripheral venous access; complex hand or foot surgery

References : 

-         Pilkington S, Hearth M, Richards AM, Hobby JAE. 
Laurin-Sandrow syndrome: a surgical challenge. 
Br J Plast Surg 2000; 53- 68-70.

-         Marino-Enriquez A, Lapunzina P, Omenaca F, Morales C, Rodriguez JI. 
Laurin-Sandrow syndrome: review and redefinition. 
Am J Med Genet Part A 2008; 146A: 2557-65.  

-        Buzea C, Boulanger N.
Laurin-Sandrow Syndrome – a review of the literature and classification system.
Clinical Dysmorphology 2022 ; 31:109-12

       

Updated: November 2023