Schneckenbecken dysplasia
Synonyms: Chondrodysplasia with snail-like pelvis · SLC35D1-CDG
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare spondylodysplastic dysplasia characterized by the typical radiographic finding of snail-like configuration of the hypoplastic iliac bones. Additional features include flattened hypoplastic vertebral bodies, short ribs, short and wide fibulae, short and broad long bones with a dumbbell-like appearance, and precocious ossification of the tarsus. The malformation is lethal perinatally.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Schneckenbecken dysplasia | Chondrodysplasia with snail-like pelvis · SLC35D1-CDG |
| fr | Dysplasie Schneckenbecken | Chondrodysplasie avec bassin en escargot · SLC35D1-CDG |
| de | Schneckenbecken-Dysplasie | Chondrodysplasie mit schneckenähnlichem Becken · SLC35D1-CDG |
| es | Displasia de Schneckenbecken | Condrodisplasia con pelvis en espiral · SLC35D1-CDG |
| it | Displasia di Schneckenbecken | Condrodisplasia con bacino a chiocciola · SLC35D1-CDG |
| nl | Schneckenbecken-dysplasie | SLC35D1-CDG · Chondrodysplasie met slakachtige pelvis |
| pt | Displasia de Schneckenbecken | |
| pl | Dysplazja Schneckenbeckena | Chondrodysplazja z miednicą podobną do węża · SLC35D1-CDG |
| cs | Schneckenbecken dysplázie | Chondrodysplázie s pánevní kostí vzhledu slimáka · SLC35D1-CDG |
| uk | Дисплазія Шнекенбекена | Хондродисплазія з равликоподібним тазом · SLC35D1-CDG |
| zh | 脊柱元骨骺发育不良发育不良 | 软骨发育不良伴蜗牛样骨盆 |
| tr | Schneckenbecken displazisi | SLC35D1-CDG · Salyangoz benzeri pelvis ile seyreden kondrodisplazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 269250 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0010013 | E | validated | |
| MeSH | C536637 | E | validated | |
| UMLS | C0432194 | E | validated | |
| GARD | 169 | 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 (3):
- ORPHA:371195Congenital disorder of glycosylation-related bone disorder
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:309463Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:93434Spondylodysplastic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC35D1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:20800 | ENSG00000116704 | 610804 | 1p31.3 | solute carrier family 35 member D1 | 19508970[PMID] |
| INPPL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6080 | ENSG00000165458 | 600829 | 11q13.4 | inositol polyphosphate phosphatase like 1 | 25997753[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25997753[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
26 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:0000944 | Abnormal metaphysis morphology | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0003038 | Fibular hypoplasia | |
| HP:0000946 | Hypoplastic ilia | |
| HP:0000882 | Hypoplastic scapulae | |
| HP:0008479 | Hypoplastic vertebral bodies | |
| HP:0012107 | Increased fibular diameter | |
| HP:0000895 | Lateral clavicle hook | |
| HP:0001004 | Lymphedema | |
| HP:0000256 | Macrocephaly | |
| HP:0000272 | Malar flattening | |
| HP:0002983 | Micromelia | |
| HP:0000774 | Narrow chest | |
| HP:0001561 | Polyhydramnios | |
| HP:0000470 | Short neck | |
| HP:0000773 | Short ribs | |
| Frequent (79-30%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000028 | Cryptorchidism | |
| HP:0000268 | Dolichocephaly | |
| HP:0001800 | Hypoplastic toenails | |
| Occasional (29-5%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0008108 | Advanced tarsal ossification | |
| HP:0000175 | Cleft palate | |
| HP:0005019 | Diaphyseal thickening | |
| HP:0000947 | Dumbbell-shaped long bone | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3144
- This record as JSON: /data/d/3144.json