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Laurin-Sandrow syndrome(LSS)

MedGen UID:
340697
•Concept ID:
C1851100
•
Disease or Syndrome
Synonyms: FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS; Fibula ulna duplication tibia radius absence; LSS; Mirror hands and feet with nasal defects; Sandrow syndrome; Tetramelic mirror-image polydactyly
SNOMED CT: Mirror hands and feet co-occurrent with nasal defect (715440003); Laurin Sandrow syndrome (715440003); Sandrow syndrome (715440003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): LMBR1 (7q36.3)
 
Monarch Initiative: MONDO:0007615
OMIM®: 135750
Orphanet: ORPHA2378

Definition

Laurin-Sandrow syndrome (LSS) is an autosomal dominant disorder characterized by polysyndactyly of hands and feet, mirror image duplication of feet, and nasal defects (hypoplastic alae nasi, short columella), in connection with absent patella and duplicated fibula (summary by Lohan et al., 2014). [from OMIM]

Clinical features

From HPO
Syndactyly
MedGen UID:
52619
•Concept ID:
C0039075
•
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
See: Feature record | Search on this feature
Hand polydactyly
MedGen UID:
510636
•Concept ID:
C0158733
•
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
See: Feature record | Search on this feature
Triphalangeal thumb
MedGen UID:
66029
•Concept ID:
C0241397
•
Congenital Abnormality
A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.
See: Feature record | Search on this feature
Absent radius
MedGen UID:
235613
•Concept ID:
C1405984
•
Congenital Abnormality
Missing radius bone associated with congenital failure of development.
See: Feature record | Search on this feature
Short foot
MedGen UID:
376415
•Concept ID:
C1848673
•
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
See: Feature record | Search on this feature
Broad foot
MedGen UID:
356187
•Concept ID:
C1866241
•
Finding
A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.
See: Feature record | Search on this feature
Patellar aplasia
MedGen UID:
401474
•Concept ID:
C1868578
•
Congenital Abnormality
Absence of the patella.
See: Feature record | Search on this feature
Fibular duplication
MedGen UID:
478372
•Concept ID:
C3276742
•
Finding
Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.
See: Feature record | Search on this feature
Absent tibia
MedGen UID:
478374
•Concept ID:
C3276744
•
Finding
Absence of the tibia.
See: Feature record | Search on this feature
Underdeveloped nasal alae
MedGen UID:
322332
•Concept ID:
C1834055
•
Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
See: Feature record | Search on this feature
Abnormality of the face
MedGen UID:
871375
•Concept ID:
C4025871
•
Anatomical Abnormality
An abnormality of the face.
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLaurin-Sandrow syndrome
Follow this link to review classifications for Laurin-Sandrow syndrome in Orphanet.

Recent clinical studies

Diagnosis

"Laurin-Sandrow Syndrome - a review of the literature and classification system".
Buzea C, Boulanger N
Clin Dysmorphol 2022 Jul 1;31(3):109-112. Epub 2022 Mar 7 doi: 10.1097/MCD.0000000000000420. PMID: 35256564
Art and Pediatric Orthopaedics: The Master of Alkmaar and an Act of Mercy.
Joseph B
J Pediatr Orthop 2021 Feb 1;41(2):e103-e104. doi: 10.1097/BPO.0000000000001685. PMID: 33017336
Early Surgical Correction of the Nasal Deformity in Laurin-Sandrow Syndrome.
Roman P, Lypka M
J Craniofac Surg 2017 Mar;28(2):e126-e127. doi: 10.1097/SCS.0000000000003668. PMID: 28234639
The oldest reported mirror hand? The curse of the coal-house frog!
Marsden NJ, Whitaker IS, Boyce DE
Ann R Coll Surg Engl 2012 May;94(4):e149-51. doi: 10.1308/003588412X13171221589577. PMID: 22613283Free PMC Article

Prognosis

Laurin-Sandrow syndrome: review and redefinition.
Mariño-Enríquez A, Lapunzina P, Omeñaca F, Morales C, Rodríguez JI
Am J Med Genet A 2008 Oct 1;146A(19):2557-65. doi: 10.1002/ajmg.a.32393. PMID: 18792985

Clinical prediction guides

Laurin-Sandrow syndrome with additional associated manifestations.
Kantaputra PN
Am J Med Genet 2001 Jan 22;98(3):210-5. doi: 10.1002/1096-8628(20010122)98:3<210::aid-ajmg1085>3.0.co;2-7. PMID: 11169557

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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