X-linked skeletal dysplasia-intellectual disability syndrome
historical
Synonyms: Christian syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- historical
A rare spondylodysplastic dysplasia characterized by skeletal anomalies, including short stature, ridging of the metopic suture, a fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges. Patients also had a moderate intellectual disability and abducens palsies. Glucose intolerance and imperforate anus were also described. There have been no further descriptions in the literature since 1977.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked skeletal dysplasia-intellectual disability syndrome | Christian syndrome |
| fr | Syndrome d'anomalies squelettiques-déficience intellectuelle lié a l'X | Syndrome de Christian |
| de | X-chromosomale Skelettdysplasie-Intelligenzminderung-Syndrom | Christian-Syndrom |
| es | Síndrome de displasia esquelética-discapacidad intelectual ligado al cromosoma X | Síndrome de Christian |
| it | Sindrome displasia scheletrica-disabilità intellettiva legata all'X | Sindrome di Christian |
| nl | X-gebonden skeletdysplasie - intellectuele achterstand-syndroom | Syndroom van Christian |
| pt | Síndrome de displasia esquelética-perturbação do desenvolvimento intelectual ligada ao X | Síndrome Christian |
| pl | Dysplazja szkieletowa - niepełnosprawność intelektualna | Zespół Christiana |
| cs | Syndrom zahrnující skeletální dysplázii a mentální retardaci | Christianův syndrom |
| uk | Синдром Х-зчепленої скелетної дисплазії-інтелектуальної недостатності | Синдром Крістіана |
| zh | X连锁骨骼发育不良-智力障碍综合征 | Christian综合征 |
| tr | X'e bağlı iskelet displazisi-zihinsel yetersizlik sendromu | Christian sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309620 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.5Y | NTBT | attributed | validated |
| MONDO | 0010668 | E | validated | |
| MONDO | 10668 | E | validated | |
| MeSH | C564101 | E | validated | |
| UMLS | C1839729 | E | validated | |
| GARD | 3520 | 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:93434Spondylodysplastic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
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 | 4 cases | Worldwide | Case(s) | Validated | 837562[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_837562[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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005107 | Abnormal sacrum morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0002949 | Fused cervical vertebrae | |
| HP:0002650 | Scoliosis | |
| HP:0005819 | Short middle phalanx of finger | |
| HP:0004322 | Short stature | |
| HP:0008467 | Thoracic hemivertebrae | |
| Frequent (79-30%) | ||
| HP:0005978 | Type II diabetes mellitus | |
| Occasional (29-5%) | ||
| HP:0002023 | Anal atresia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1436
- This record as JSON: /data/d/1436.json