X-linked intellectual disability-craniofacioskeletal syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-craniofacioskeletal syndrome | |
| fr | Syndrome de déficience intellectuelle liée à l'X-syndrome cranio-facio-squelettique | |
| de | Kranio-fazio-skeletales Syndrom, X-chromosomales | |
| es | Síndrome de discapacidad intelectual-anomalías craneofacioesqueléticas ligado al X | |
| it | Sindrome cranio-facio-scheletrica con disabilità intellettiva legata all'X | |
| nl | X-gebonden intellectuele achterstand - craniofacioskeletaal syndroom | |
| pt | Síndrome craniofacioesquelético-perturbação do desenvolvimento intelectual ligada ao X | |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X - zespół czaszkowo-twarzowo-szkieletowy | |
| cs | X-vázaná mentální retardace s kraniofacioskeletálními symptomy | |
| uk | Х-зчеплена розумова відсталість-краніофаціально-скелетний синдром | |
| zh | X连锁智力障碍-颅颌面骨综合征 | |
| tr | X'e bağlı zihinsel yetersizlik-kraniyofasiyoskeletal sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300712 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010412 | E | validated | |
| UMLS | C4750743 | 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17853486[PMID] |
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 17853486[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
48 annotations · validated 2019-08-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001488 | Bilateral ptosis | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000252 | Microcephaly | |
| HP:0011833 | Overhanging nasal tip | |
| HP:0001763 | Pes planus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0009237 | Short 5th finger | |
| HP:0000331 | Short chin | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0001863 | Toe clinodactyly | |
| HP:0000430 | Underdeveloped nasal alae | |
| Occasional (29-5%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0011467 | Absent gallbladder | |
| HP:0001903 | Anemia | |
| HP:0008386 | Aplasia/Hypoplasia of the nails | |
| HP:0001631 | Atrial septal defect | |
| HP:0000337 | Broad forehead | |
| HP:0002682 | Broad skull | |
| HP:0001782 | Bulbous tips of toes | |
| HP:0005306 | Capillary hemangioma | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000453 | Choanal atresia | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0030148 | Heart murmur | |
| HP:0000238 | Hydrocephalus | |
| HP:0000126 | Hydronephrosis | |
| HP:0002904 | Hyperbilirubinemia | |
| HP:0001187 | Hyperextensibility of the finger joints | |
| HP:0002901 | Hypocalcemia | |
| HP:0000047 | Hypospadias | |
| HP:0011611 | Interrupted aortic arch | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0010511 | Long toe | |
| HP:0000054 | Micropenis | |
| HP:0008551 | Microtia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000520 | Proptosis | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001838 | Rocker bottom foot | |
| HP:0001873 | Thrombocytopenia | |
| HP:0002777 | Tracheal stenosis | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001629 | Ventricular septal defect | |
| HP:0006610 | Wide intermamillary distance | |
Annotation source: 17853486[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163979
- This record as JSON: /data/d/163979.json