Encephalocraniocutaneous Lipomatosis

Description

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Encephalocraniocutaneous Lipomatosis

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Cryptorchidism
  • Spasticity
  • Delayed speech and language development
  • Macrocephaly
  • Ventricular septal defect

And another 92 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Encephalocraniocutaneous Lipomatosis Is also known as haberland syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Encephalocraniocutaneous Lipomatosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KRAS Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

KRAS
Specificity
100 %
Genes
50 %
KRAS Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

KRAS
Specificity
100 %
Genes
50 %
KRAS Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

KRAS
Specificity
100 %
Genes
50 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories (United States).

RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
KRAS/RAF1/SOS1 DNA Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SOS1, KRAS, RAF1
Specificity
34 %
Genes
50 %
KRAS DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

KRAS
Specificity
100 %
Genes
50 %
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
50 %
NGS RASopathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %

You can get up to 416 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SYNDACTYLY, TYPE IV; SDTY4 EPSTEIN SYNDROME; EPSTNS CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3 MUCKLE-WELLS SYNDROME; MWS