Larsen-like osseous dysplasia-short stature syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Larsen-like osseous dysplasia-short stature syndrome | |
| fr | Syndrome de dysplasie osseuse Larsen-like-nanisme | Syndrome de nanisme-laxité ligamentaire-retard de croissance |
| de | Larsen-ähnliches Syndrom - Knochendysplasie - Kleinwuchs | |
| es | Síndrome de displasia ósea similar a Larsen-talla baja | Enanismo-laxitud ligamentosa-retraso del crecimiento · Síndrome de displasia ósea de Larsen-like-talla baja |
| it | Sindrome da displasia ossea Larsen - simile con bassa statura | |
| nl | Larsen-achtige botdysplasie - kleine gestalte-syndroom | |
| pt | Síndrome de displasia óssea tipo Larsen-nanismo | |
| pl | Dysplazja kostna typu Larsena - niski wzrost | |
| cs | Syndrom zahrnující oseální dysplázii podobnou Larsenovu syndromu a malý vzrůst | |
| uk | Синдром Ларсен-подібної кісткової дисплазії - низького зросту | |
| zh | Larsen样骨异常增生症-矮小综合征 | |
| tr | Larsen benzeri kemik displazisi-kısa boy sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608545 | E | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| ICD-11 | LD24.E | NTBT | index | validated |
| MONDO | 0012055 | E | validated | |
| UMLS | C4707236 | 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:93441Primary bone dysplasia with multiple joint dislocations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 12784294[PMID]_1916762[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_ 12784294[PMID]_1916762[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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001385 | Hip dysplasia | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000520 | Proptosis | |
| Occasional (29-5%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0007957 | Corneal opacity | |
| HP:0001263 | Global developmental delay | |
| HP:0000160 | Narrow mouth | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0003196 | Short nose | |
| HP:0000486 | Strabismus | |
| HP:0000233 | Thin vermilion border | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2370
- This record as JSON: /data/d/2370.json