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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.
Features include: Triphalangeal thumb, Short foot, Underdeveloped nasal alae, and Abnormality of the face and 7 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Arms and legs | 3 | Short foot, Hand polydactyly, Broad foot |
Head and neck |
LMBR1 encodes limb development membrane protein 1 (490 aa). Putative membrane receptor Highest expression in Adrenal Gland (16.9 TPM) and Testis (14.8 TPM).
Laurin-Sandrow syndrome is associated with mutations in the LMBR1 gene on chromosome 7.
LMBR1 is classified as a druggable target with score 0.0.
Genetic testing for LMBR1 is available. Testing is considered confirmatory for diagnosis.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for laurin-Sandrow syndrome.
5 publications have been identified in PubMed for laurin-Sandrow syndrome. Kisho has analyzed 3 by research type. Research spans Basic Science / Preclinical (100%).
Chand K (2026). [PMID: 42068746](https://pubmed.ncbi.nlm.nih.gov/42068746/). *Biochem Biophys Res Commun*. [Basic Science / Preclinical]
Straulino E (2025). [PMID: 40081756](https://pubmed.ncbi.nlm.nih.gov/40081756/). *Neuropsychologia*. [Basic Science / Preclinical]
Lu X (2024). [PMID: 39293386](https://pubmed.ncbi.nlm.nih.gov/39293386/). *Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:53 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1
Abnormality of the face |