Arachnodactyly-intellectual disability-dysmorphism syndrome
historical
Synonyms: De Die-Smulders-Vles-Fryns syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Arachnodactyly-intellectual disability-dysmorphism syndrome | De Die-Smulders-Vles-Fryns syndrome |
| fr | Syndrome d'arachnodactylie-déficience intellectuelle-dysmorphie | Syndrome de De Die-Smulders-Vles-Fryns |
| de | Arachnodaktylie-Intelligenzminderung-Dysmorphie-Syndrom | Die-Smulders-Vles-Fryns-Syndrom |
| es | Síndrome de aracnodactilia-discapacidad intelectual-dismorfia | Síndrome de De Die-Smulders-Vles-Fryns |
| it | Sindrome aracnodattilia-disabilità intellettiva-dismorfismi | Sindrome di Die Smulders-Vles-Fryns |
| nl | Arachnodactylie - intellectuele achterstand - dysmorfie-syndroom | Syndroom van De Die-Smulders-Vles-Fryns |
| pt | Síndrome de aracnodactilia-perturbação do desenvolvimento intelectual-dismorfia | Síndrome De Die Smulders-Vles-Fryns |
| pl | Arachnodaktylia - niepełnosprawność intelektualna - dysmorfia | Zespół De Die, Smuldersa, Vlesa i Frynsa |
| cs | Syndrom zahrnující arachnodaktylii, mentální retardaci a dysmorfii | De Die-Smuldersové-Vlesův-Frynsův syndrom · De Die-Smulders-Vles-Frynsův syndrom |
| uk | Синдром арахнодактилії-інтелектуальної недостатності-дисморфізму | Синдром Де Ді-Смульдерса-Влеса-Фрінса |
| zh | 蜘蛛指畸形-智力障碍-外貌畸形综合征 | De Die-Smulders-Vles-Fryns 综合征 |
| tr | Araknodaktili-zihinsel yetersizlik-dismorfizm sendromu | De Die-Smulders-Vles-Fryns sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0015235 | E | validated | |
| UMLS | C4304030 | E | validated | |
| GARD | 764 | 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 | 3 cases | Worldwide | Case(s) | Validated | 8357568[PMID]_7794564[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8357568[PMID]_7794564[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/1130
- This record as JSON: /data/d/1130.json