Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Synonyms: SAMS syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | SAMS syndrome |
| fr | Syndrome de petite taille-atrésie du canal auditif-hypoplasie mandibulaire-anomalies squelettiques | Syndrome SAMS |
| de | Kleinwuchs-Hörkanalatresie-Mandibuläre Hypoplasie-Skelettanomalien-Syndrom | SAMS-Syndrom |
| es | Síndrome de talla baja-atresia del conducto auditivo-hipoplasia mandibular-anomalías esqueléticas | Síndrome SAMS |
| it | Sindrome da bassa statura, atresia del canale uditivo, ipoplasia mandibolare ed anomalie scheletriche | Sindrome SAMS |
| nl | Kleine gestalte - gehoorgangatresie - mandibulaire hypoplasie - skeletanomalieën-syndroom | SAMS-syndroom |
| pt | Síndrome de baixa estatura-atresia do canal auditivo-hipoplasia mandibular-anomalias esqueléticas | |
| pl | Zespół niski wzrost - atrezja kanału słuchowego - hipoplazja żuchwy - wady układu kostnego | Zespół SAMS |
| cs | Syndrom zahrnující malý vzrůst, atrézii zvukovodu, mandibulární hypoplázii a anomálie skeletu | SAMS syndrom |
| uk | Синдром низькорослості-атрезії слухового проходу-гіпоплазії нижньої щелепи-скелетних аномалій | Синдром SAMS |
| zh | 身材矮小-听道闭锁-下颌骨发育不全-骨骼异常综合征 | SAMS综合征 |
| tr | Kısa boy-işitsel kanal atrezisi-mandibular hipoplazi-iskelet anomalileri sendromu | SAMS sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602471 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.Y | NTBT | attributed | validated |
| MONDO | 0011227 | E | validated | |
| UMLS | C4751574 | 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 (7):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:156243Pinnae and external auditory canal anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GSC | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4612 | ENSG00000133937 | 138890 | 14q32.13 | goosecoid homeobox | 24290375[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 24290375[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24290375[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397623
- This record as JSON: /data/d/397623.json