loading...| Preferred Name |
Encephalocraniocutaneous lipomatosis |
|
| Synonyms |
Haberland syndrome |
|
| Definitions |
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. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2396 |
|
| alternative_term |
Haberland syndrome |
|
| definition |
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. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2396 |
|
| has_age_of_onset |
Antenatal Neonatal |
|
| has_inheritance |
Not applicable |
|
| hasDbXref |
MeSH:C535736 ICD-11:EF02.1 OMIM:613001 ICD-10:E88.2 UMLS:C0406612 |
|
| label |
Encephalocraniocutaneous lipomatosis |
|
| notation |
ORPHA:2396 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_183487 |
|
| prefixIRI |
ORDO:Orphanet_2396 |
|
| prefLabel |
Encephalocraniocutaneous lipomatosis |
|
| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 77.0 (Case) |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_183487 |
|
| subClassOf |