Craniosynostosis-dental anomalies
Synonyms: Kreiborg-Pakistani syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare syndromic craniosynostosis characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniosynostosis-dental anomalies | Kreiborg-Pakistani syndrome |
| fr | Craniosynostose-anomalies dentaires | Syndrome de Kreiborg-Pakistani |
| de | Kraniosynostose und Zahnanomalien | Kreiborg-Pakistani-Syndrom |
| es | Craneosinostosis y anomalías dentales | Síndrome de Kreiborg-Pakistani |
| it | Sindrome da craniosinostosi e anomalie dei denti | Sindrome di Kreiborg-Pakistani |
| nl | Craniosynostose - dentale anomalieën | Syndroom van Kreiborg-Pakistani |
| pt | Craniossinostose e anomalias dentárias | |
| pl | Kraniosynostoza i wady zębów | Zespół Kreiborga i Pakistaniego |
| cs | Kraniosynostóza a anomálie zubů | Kreiborgův-Pakistaniho syndrom · Kreiborg-Pakistaniho syndrom |
| uk | Краніосиностоз - зубні аномалії | Синдром Крейборга-Пакистані |
| zh | 颅骨融合症-牙齿畸形 | Kreiborg-Pakistani 综合征 |
| tr | Kraniosinostozis-diş anomalileri | Kreiborg-Pakistan sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614188 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0013615 | E | validated | |
| UMLS | C3280073 | 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 (3):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IL11RA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5967 | ENSG00000137070 | 600939 | 9p13.3 | interleukin 11 receptor subunit alpha | 21741611[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
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/284149
- This record as JSON: /data/d/284149.json