Details of Disease | DrugMAP

General Information of Disease (ID: DISOYBC3)

Disease Name	Laurin-Sandrow syndrome
Synonyms	LSS; fibula and ulna, Duplication of, with absence of tibia and radius; fibula ulna duplication tibia radius absence; mirror-Image polydactyly; tetramelic mirror-Image polydactyly; mirror hands and feet with nasal defects; laurin Sandrow syndrome; laurin-Sandrow syndrome, segmental; mirror hands and feets-nasal defects syndrome; laurin-Sandrow syndrome; Sandrow syndrome
Definition	Laurin-Sandrow syndrome (LSS) is characterized 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.
Disease Hierarchy	DISFLSDF: Polydactyly-syndactyly-triphalangism DIS3LICD: Congenital limb malformation DISOYBC3: Laurin-Sandrow syndrome
Disease Identifiers	MONDO ID MONDO_0007615 MESH ID C535689 UMLS CUI C1851100 OMIM ID 135750 MedGen ID 340697 Orphanet ID 2378 SNOMED CT ID 715440003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AGXT	TTF5NVW	Strong	Biomarker	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MIPOL1	OTLPN3D0	Limited	Biomarker	[2]
LMBR1	OTGRQK9V	Supportive	Autosomal dominant	[3]
COL9A2	OT1ZBDBV	Strong	Genetic Variation	[4]
HAP1	OT6SG0JQ	Strong	Genetic Variation	[5]
NFYA	OTWFFOVH	Strong	Genetic Variation	[4]
NFYC	OTZVVEV7	Strong	Genetic Variation	[5]
PITX1	OTA0UN4C	Strong	ChromosomalRearrangement	[6]
------------------------------------------------------------------------------------


⏷ Show the Full List of 7 DOT(s)

References

1	The sagittal spinal profile type: a principal precondition for surgical decision making in patients with lumbar spinal stenosis.J Neurosurg Spine. 2017 Nov;27(5):552-559. doi: 10.3171/2017.3.SPINE161269. Epub 2017 Sep 1.
2	Functional characterization of a candidate tumor suppressor gene, Mirror Image Polydactyly 1, in nasopharyngeal carcinoma.Int J Cancer. 2020 May 15;146(10):2891-2900. doi: 10.1002/ijc.32732. Epub 2019 Nov 1.
3	Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. Clin Genet. 2014 Oct;86(4):318-25. doi: 10.1111/cge.12352. Epub 2014 Feb 17.
4	A haplotype at the COL9A2 gene locus contributes to the genetic risk for lumbar spinal stenosis in the Korean population.Spine (Phila Pa 1976). 2011 Jul 15;36(16):1273-8. doi: 10.1097/BRS.0b013e31820e6282.
5	Progression of lumbar spinal stenosis is influenced by polymorphism of thrombospondin 2 gene in the Korean population.Eur Spine J. 2014 Jan;23(1):57-63. doi: 10.1007/s00586-013-2866-6. Epub 2013 Jun 27.
6	Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. Eur J Hum Genet. 2012 Jun;20(6):705-8. doi: 10.1038/ejhg.2011.264. Epub 2012 Jan 18.