Facial dysmorphism-shawl scrotum-joint laxity syndrome
Synonyms: Seaver-Cassidy syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Facial dysmorphism-shawl scrotum-joint laxity syndrome | Seaver-Cassidy syndrome |
| fr | Syndrome de dysmorphie faciale-scrotum en châle-hyperlaxité ligamentaire | Syndrome de Seaver-Cassidy |
| de | Gesichtsdysmorphie-Schalskrotum-Gelenkschlaffheit-Syndrom | |
| es | Síndrome de dismorfia facial-escroto en alforja-hiperlaxitud ligamentaria | Síndrome de Seaver-Cassidy |
| it | Dismorfismi facciali - scroto a scialle - iperlassità legamentosa | Sindrome di Seaver-Cassidy |
| nl | Faciale dysmorfie - sjaalscrotum - gewrichtslaxiteit-syndroom | Syndroom van Seaver-Cassidy |
| pt | Síndrome de dismorfia facial-escroto em xaile-hiperlaxidão articular | Síndrome Seaver-Cassidy |
| pl | Dysmorfia twarzy - shawl scrotum - luźność stawów | Zespół Seavera i Cassidy |
| cs | Syndrom zahrnující faciální dysmorfismus, šálovité skrotum a uvolněné klouby | Seaverův-Cassidyho syndrom · Seaver-Cassidyho syndrom |
| uk | Синдром дисморфізму обличчя-шалеподібної мошонки-розхитаності суглобів | Синдром Сівера-Кессіді |
| zh | 面部畸形-披巾阴囊-关节松弛综合征 | Seaver-Cassidy 综合征 |
| tr | Yüz dismorfizmi-ventral skrotal katlanma-eklem gevşekliği sendromu | Seaver-Cassidy sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0015781 | E | validated | |
| MeSH | C537529 | E | validated | |
| UMLS | C2931522 | E | validated | |
| GARD | 4778 | 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 (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological 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 | 2 cases | Worldwide | Case(s) | Validated | 1776627[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1776627[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
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0002857 | Genu valgum | |
| HP:0000316 | Hypertelorism | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0000369 | Low-set ears | |
| HP:0003764 | Nevus | |
| HP:0000411 | Protruding ear | |
| HP:0000508 | Ptosis | |
| HP:0000049 | Shawl scrotum | |
| HP:0000319 | Smooth philtrum | |
| HP:0000506 | Telecanthus | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0001928 | Abnormality of coagulation | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001608 | Abnormality of the voice | |
| HP:0002967 | Cubitus valgus | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001382 | Joint hypermobility | |
| HP:0000239 | Large fontanelles | |
| HP:0002162 | Low posterior hairline | |
| HP:0000303 | Mandibular prognathia | |
| HP:0001537 | Umbilical hernia | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1778
- This record as JSON: /data/d/1778.json