Laurin-Sandrow syndrome
Synonyms: Mirror hands and feets-nasal defects syndrome · Sandrow syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Laurin-Sandrow syndrome | Mirror hands and feets-nasal defects syndrome · Sandrow syndrome |
| fr | Syndrome de Laurin-Sandrow | Syndrome de Sandrow · Syndrome de mains et pieds en miroir-anomalie du nez |
| de | Laurin-Sandrow-Syndrom | Füße und Hände, spiegelbildliche - Nasenanomalien · Sandrow-Syndrom |
| es | Síndrome de Laurin-Sandrow | |
| it | Sindrome di Laurin-Sandrow | Mani e piedi a specchio - anomalie del naso |
| nl | Syndroom van Laurin-Sandrow | Spiegelhanden en -voeten - defecten van neus-syndroom · Syndroom van Sandrow |
| pt | Síndrome Laurin-Sandrow | Síndrome de mãos e pés em espelho-anomalias do nariz |
| pl | Zespół Laurina i Sandrowa | Lustrzane odbicie dłoni i stóp - wady nosa · Zespół Sandrowa |
| cs | Laurinové-Sandrowův syndrom | Syndrom zahrnující zrcadlové ruce a nohy a defekty nosu · Sandrowův syndrom · Laurin-Sandrowův syndrom |
| uk | Синдром Лауріна-Сандроу | Синдром дзеркальних рук і ніг - дефектів носа · Синдром Сандроу |
| zh | Laurin-Sandrow综合征 | 一腕双手-脚鼻缺陷综合征 |
| tr | Laurin-Sandrow sendromu | Sandrow sendromu · Ayna el ve ayak-burun defektleri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 135750 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD26.2 | NTBT | index | validated |
| MONDO | 0007615 | E | validated | |
| MeSH | C535689 | E | validated | |
| UMLS | C1851100 | E | validated | |
| GARD | 155 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMBR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:13243 | ENSG00000105983 | 605522 | 7q36.3 | limb development membrane protein 1 | 24456159[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 18792985[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18792985[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0006101 | Finger syndactyly | |
| HP:0010689 | Mirror image polydactyly | |
| HP:0001841 | Preaxial foot polydactyly | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0008368 | Tarsal synostosis | |
| HP:0001770 | Toe syndactyly | |
| HP:0001199 | Triphalangeal thumb | |
| Frequent (79-30%) | ||
| HP:0000366 | Abnormality of the nose | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0003974 | Absent radius | |
| HP:0009556 | Absent tibia | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0010503 | Fibular duplication | |
| HP:0100524 | Limb duplication | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000448 | Prominent nose | |
| HP:0002000 | Short columella | |
| HP:0001883 | Talipes | |
| HP:0000430 | Underdeveloped nasal alae | |
| Occasional (29-5%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000028 | Cryptorchidism | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2378
- This record as JSON: /data/d/2378.json