Encephalocraniocutaneous lipomatosis
Synonyms: Haberland syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to seizures, spasticity, and intellectual disability. Nevus psiloliparus, focal dermal hypo- or aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Encephalocraniocutaneous lipomatosis | Haberland syndrome |
| fr | Lipomatose encéphalo-cranio-cutanée | Syndrome de Haberland |
| de | Lipomatose, enzephalo-kranio-kutane | Haberland-Syndrom |
| es | Lipomatosis encefalocraneocutánea | Síndrome de Haberland |
| it | Lipomatosi encefalo-cranio-cutanea | Sindrome di Haberland |
| nl | Encefalocraniocutane lipomatose | Syndroom van Haberland |
| pt | Lipomatose encéfalo-cranio-cutânea | |
| pl | Tłuszczakowatość mózgowo-czaszkowo-skórna | Zespół Haberlanda |
| cs | Encefalo-kranio-kutánní lipomatóza | Haberlandův syndrom |
| uk | Енцефалокраніокутанний ліпоматоз | Синдром Хаберленда |
| zh | 脑颅皮肤脂肪瘤病 | Haberland综合征 |
| tr | Ensefalokraniokütanöz lipomatoz | Haberland sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613001 | E | validated | |
| ICD-10 | E88.2 | NTBT | attributed | validated |
| ICD-11 | EF02.1 | NTBT | index | validated |
| MONDO | 0013074 | E | validated | |
| MeSH | C535736 | E | validated | |
| UMLS | C0406612 | E | validated | |
| GARD | 2108 | 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:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:183484Genetic subcutaneous tissue disorder
rare genetic diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases - ORPHA:79382Subcutaneous tissue disease
rare skin diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRAS | Candidate gene tested in | Not yet assessed | HGNC:6407 | ENSG00000133703 | 190070 | 12p12.1 | KRAS proto-oncogene, GTPase | 26970110[PMID] |
| FGFR1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 26942290[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 77 cases | Worldwide | Case(s) | Validated | 24881613[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
55 annotations · validated 2017-06-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001596 | Alopecia | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0009125 | Lipodystrophy | |
| HP:0001012 | Multiple lipomas | |
| HP:0012759 | Neurodevelopmental abnormality | |
| HP:0000488 | Retinopathy | |
| HP:0001250 | Seizure | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0000991 | Xanthomatosis | |
| Frequent (79-30%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0000614 | Abnormal nasolacrimal system morphology | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000271 | Abnormality of the face | |
| HP:0001331 | Absent septum pellucidum | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002381 | Aphasia | |
| HP:0000708 | Atypical behavior | |
| HP:0012062 | Bone cyst | |
| HP:0005306 | Capillary hemangioma | |
| HP:0002059 | Cerebral atrophy | |
| HP:0002514 | Cerebral calcification | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0007957 | Corneal opacity | |
| HP:0004493 | Craniofacial hyperostosis | |
| HP:0010529 | Echolalia | |
| HP:0001276 | Hypertonia | |
| HP:0000612 | Iris coloboma | |
| HP:0000256 | Macrocephaly | |
| HP:0003552 | Muscle stiffness | |
| HP:0002300 | Mutism | |
| HP:0010622 | Neoplasm of the skeletal system | |
| HP:0001052 | Nevus flammeus | |
| HP:0002797 | Osteolysis | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002063 | Rigidity | |
| HP:0001257 | Spasticity | |
| HP:0012157 | Subcortical cerebral atrophy | |
| HP:0001704 | Tricuspid valve prolapse | |
| HP:0002119 | Ventriculomegaly | |
| HP:0100761 | Visceral angiomatosis | |
| Occasional (29-5%) | ||
| HP:0001679 | Abnormal aortic morphology | |
| HP:0002763 | Abnormal cartilage morphology | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0001680 | Coarctation of aorta | |
| HP:0000943 | Dysostosis multiplex | |
| HP:0001269 | Hemiparesis | |
| HP:0002301 | Hemiplegia | |
| HP:0011611 | Interrupted aortic arch | |
| HP:0040188 | Osteochondrosis | |
| HP:0003470 | Paralysis | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0002445 | Tetraplegia | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 26942290[PMID]_24881613[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2396
- This record as JSON: /data/d/2396.json