Congenital infiltrating lipomatosis of the face
Synonyms: CIL-F · Facial infused lipomatosis · Fibroadipose infiltrating lipomatosis
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare PIK3CA-related overgrowth syndrome characterized by congenital non-hereditary facial overgrowth due to post-zygotic activating mutations in the <i>PIK3CA</i> gene. It is unilateral and involves hypertrophy of both the soft and hard tissue structures on the affected side of the face, including hypertrophy of the facial bones, macroglossia, and proliferation of the parotid gland. Early eruption of the teeth is common.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital infiltrating lipomatosis of the face | CIL-F · Facial infused lipomatosis · Fibroadipose infiltrating lipomatosis |
| fr | Lipomatose congénitale infiltrante de la face | Lipomatose infiltrante congénitale du visage |
| de | Kongenitale infiltrierende Lipomatose des Gesichts | CIL-F · Fazial infiltrierende Lipomatose · Lipomatose, fibroadipöse infiltrierende |
| es | Lipomatosis infiltrante facial congénita | CIL-F · Lipomatosis infiltrante de la cara congénita · Lipomatosis infiltrante fibroadiposa · Lipomatosis infundida facial |
| it | Lipomatosi congenita infiltrante del viso | CIL-F · Lipomatosi facciale infiltrante · Lipomatosi fibroadiposa infiltrante |
| nl | Congenitale infiltrerende lipomatose van gelaat | CIL-F · Faciale infiltrerende lipomatose · Fibroadipeuze infiltrerende lipomatose |
| pt | Lipomatose infiltrativa congénita da face | |
| pl | Wrodzona naciekająca tłuszczakowatość twarzy | = en |
| cs | Vrozená infiltrující lipomatóza obličeje | = en |
| uk | Вроджений інфільтративний ліпоматоз обличчя | CIL-F · Інфільтрований ліпоматоз обличчя · Фіброзно-дипозний інфільтративний ліпоматоз |
| zh | 先天性面部浸润性多发性脂肪瘤样病 | 纤维脂肪性浸润性脂肪瘤病 |
| tr | Yüzün doğumsal infiltratif lipomatozu | CIL-F · Fasiyal infüze lipomatoz · Fibroadipoz infiltre edici lipomatoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | EF02.1 | NTBT | index | validated |
| MONDO | 0035592 | E | validated | |
| UMLS | C5680341 | 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 (1):
- ORPHA:530313PIK3CA-related overgrowth spectrum disorder
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIK3CA | Disease-causing germline mutation(s) in | Assessed | HGNC:8975 | ENSG00000121879 | 171834 | 3q26.32 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 28846548[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 59 cases | Worldwide | Case(s) | Validated | 31280031[PMID]_25860506[PMID]_28846548[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 31280031[PMID]_25860506[PMID]_28846548[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
20 annotations · validated 2024-01-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000324 | Facial asymmetry | |
| Frequent (79-30%) | ||
| HP:0007552 | Abnormal subcutaneous fat tissue distribution | |
| HP:0006288 | Advanced eruption of teeth | |
| HP:0030812 | Enlarged tonsils | |
| HP:0011801 | Enlargement of parotid gland | |
| HP:0000293 | Full cheeks | |
| HP:0430028 | Hyperplasia of the maxilla | |
| HP:0000158 | Macroglossia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0012370 | Prominence of the zygomatic bone | |
| Occasional (29-5%) | ||
| HP:0012433 | Abnormal social behavior | |
| HP:0006349 | Agenesis of permanent teeth | |
| HP:0007206 | Hemimegalencephaly | |
| HP:0001572 | Macrodontia | |
| HP:0000995 | Melanocytic nevus | |
| HP:0031023 | Multiple mucosal neuromas | |
| HP:0001302 | Pachygyria | |
| HP:0002360 | Sleep abnormality | |
| HP:0010535 | Sleep apnea | |
| HP:0012478 | Temporomandibular joint ankylosis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 36826055[PMID]_32770747[PMID]_31280031[PMID]_28846548[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/583097
- This record as JSON: /data/d/583097.json