Arachnodactyly-abnormal ossification-intellectual disability syndrome
Synonyms: Kosztolanyi syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Arachnodactyly-abnormal ossification-intellectual disability syndrome | Kosztolanyi syndrome |
| fr | Syndrome d'arachnodactylie-ossification anormale-déficience intellectuelle | Syndrome de Kosztolanyi |
| de | Arachnodaktylie-Ossifikationsstörungen-Intelligenzminderung-Syndrom | Kosztolanyi-Syndrom |
| es | Síndrome de aracnodactilia-osificación anómala-discapacidad intelectual | Síndrome de Kosztolanyi |
| it | Sindrome aracnodattilia-anomalia dell'ossificazione-disabilità intellettiva | Sindrome di Kosztolanyi |
| nl | Arachnodactylie - abnormale ossificatie - intellectuele achterstand-syndroom | Syndroom van Kosztolanyi |
| pt | Síndrome de aracnodactilia-defeitos da ossificação-perturbação do desenvolvimento intelectual | Síndrome Kosztolanyi |
| pl | Arachnodaktylia - nieprawidłowa osteogeneza - niepełnosprawność intelektualna | Zespół Kosztolanyi |
| cs | Syndrom zahrnující arachnodaktylii, abnormální osifikaci a mentální retardaci | Kosztolanyiův syndrom |
| uk | Синдром арахнодактилії-аномального окостеніння-інтелектуальної недостатності | Синдром Коштолані |
| zh | 蜘蛛指畸形-异常骨化-智力障碍综合征 | Kosztolanyi 综合征 |
| tr | Araknodaktili-anormal ossifikasyon-zihinsel yetersizlik sendromu | Kosztolanyi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0015234 | E | validated | |
| MeSH | C537024 | E | validated | |
| UMLS | C2931398 | E | validated | |
| GARD | 381 | 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 (4):
- 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 - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic 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 | 5 cases | Worldwide | Case(s) | Validated | 8533819[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8533819[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
15 annotations · validated 2018-01-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0010565 | Aplasia/Hypoplasia of the Epiglottis | |
| HP:0001166 | Arachnodactyly | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0011968 | Feeding difficulties | |
| HP:0008947 | Floppy infant | |
| HP:0002007 | Frontal bossing | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000347 | Micrognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0000586 | Shallow orbits | |
| HP:0003196 | Short nose | |
| HP:0010539 | Thin calvarium | |
| Occasional (29-5%) | ||
| HP:0002104 | Apnea | |
Annotation source: 8533819[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1129
- This record as JSON: /data/d/1129.json