Laurin-Sandrow syndrome

Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.



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Narrow down the case reports



Total: 5 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(35.4%)		 25328478
 A case report of bilateral mirror clubfeet and bilateral hand polydactyly.
Nguyen MP, Lawler EA, Morcuende JA.
Iowa Orthop J. 2014;34:171-4.
Hand polydactyly
Child Child, Preschool Females Fingers Homo sapiens Polydactyly
1
(35.4%)		 15389704
 Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome.
Innis JW, Hedera P.
Am J Med Genet A. 2004;131(1):77-81.
Hand polydactyly
Child Congenital Hand Deformities Homo sapiens Infant Male Polydactyly Syndrome
3
(31.0%)		 10657454
 Laurin-Sandrow syndrome--a surgical challenge.
Pilkington S, Hearth M, Richards AM, Hobby JA.
Br J Plast Surg. 2000;53(1):68-70.
Syndactyly
Females Fingers Homo sapiens Infant, Newborn Nose Polydactyly Syndactyly Syndrome Toes
4
(4.0%)		 28234639
 Early Surgical Correction of the Nasal Deformity in Laurin-Sandrow Syndrome.
Roman P, Lypka M.
J Craniofac Surg. 2017;28(2):e126-e127.
Overgrowth
Congenital Foot Deformity Congenital Hand Deformities Ectromelia Females Homo sapiens Infant, Newborn Nose Time-to-Treatment
4
(4.0%)		 18792985
 Laurin-Sandrow syndrome: review and redefinition.
Marino-Enriquez A, Lapunzina P, Omenaca F, Morales C, Rodriguez JI.
Am J Med Genet A. 2008;146A(19):2557-65.
Hypertelorism
Brain Congenital Foot Deformity Congenital Hand Deformities Ectromelia Fatal Outcome Females Homo sapiens Infant Infant, Newborn Nose Polydactyly Syndactyly Syndrome Toes
        

Phenotype(s) retrieved from Orphanet

    Total: 28

HPO ID Term Frequency
HP:0001163 Abnormality of the metacarpal bones Very frequent (99-80%)
HP:0001177 Preaxial hand polydactyly Very frequent (99-80%)
HP:0001199 Triphalangeal thumb Very frequent (99-80%)
HP:0001770 Toe syndactyly Very frequent (99-80%)
HP:0001841 Preaxial foot polydactyly Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0008368 Tarsal synostosis Very frequent (99-80%)
HP:0009601 Aplasia/Hypoplasia of the thumb Very frequent (99-80%)
HP:0010689 Mirror image polydactyly Very frequent (99-80%)
HP:0000366 Abnormality of the nose Frequent (79-30%)
HP:0000430 Underdeveloped nasal alae Frequent (79-30%)
HP:0000448 Prominent nose Frequent (79-30%)
HP:0000457 Depressed nasal ridge Frequent (79-30%)
HP:0001376 Limitation of joint mobility Frequent (79-30%)
HP:0001883 Talipes Frequent (79-30%)
HP:0002000 Short columella Frequent (79-30%)
HP:0003019 Abnormality of the wrist Frequent (79-30%)
HP:0003974 Absent radius Frequent (79-30%)
HP:0009556 Absent tibia Frequent (79-30%)
HP:0010503 Fibular duplication Frequent (79-30%)
HP:0100524 Limb duplication Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0001252 Muscular hypotonia Occasional (29-5%)
HP:0002714 Downturned corners of mouth Occasional (29-5%)
HP:0007370 Aplasia/Hypoplasia of the corpus callosum Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0001161 Hand polydactyly 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
LMBR1 limb development membrane protein 1 64327