Rare Endocrinology News
Disease Profile
Encephalocraniocutaneous lipomatosis
Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000
Age of onset
Neonatal
ICD-10
E88.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
ECCL; Fishman syndrome; Haberland syndrome
Categories
Congenital and Genetic Diseases; Nervous System Diseases; Skin Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2396
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 hypoor aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been associated.
Visit the Orphanet disease page for more resources.
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Alopecia |
Hair loss
|
0001596 |
| Global |
0001263 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
| Multiple lipomas |
Multiple fatty lumps
|
0001012 |
| Retinopathy |
Noninflammatory retina disease
|
0000488 |
| 0001250 | ||
| Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 |
| Xanthomatosis |
Yellow bumps of fatty deposits on skin
|
0000991 |
| 30%-79% of people have these symptoms | ||
| Abnormal eyelash morphology |
Abnormal eyelashes
Abnormality of the eyelashes
Eyelash abnormality
[ more ] |
0000499 |
| Abnormal nasolacrimal system morphology | 0000614 | |
| Absent septum pellucidum | 0001331 | |
| Agenesis of |
0001274 | |
| Aphasia |
Difficulty finding words
Losing words
Loss of words
[ more ] |
0002381 |
| Bone cyst |
Bone cysts
|
0012062 |
| Capillary hemangioma |
Strawberry birthmark
|
0005306 |
| Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Corneal opacity | 0007957 | |
| Craniofacial hyperostosis |
Excessive bone growth of the skull and face
|
0004493 |
| Dysphasia | 0002357 | |
| Echolalia |
Echoing another person's speech
|
0010529 |
| Iris coloboma |
Cat eye
|
0000612 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
| Muscle stiffness | 0003552 | |
| Mutism |
Inability to speak
Muteness
[ more ] |
0002300 |
|
Skeletal tumor
|
0010622 | |
| Nevus flammeus |
port-wine stain
|
0001052 |
| Osteolysis |
Breakdown of bone
|
0002797 |
| Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
| Rigidity |
Muscle rigidity
|
0002063 |
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
| Subcortical cerebral atrophy | 0012157 | |
| Tricuspid valve prolapse | 0001704 | |
| Ventriculomegaly | 0002119 | |
| Visceral angiomatosis | 0100761 | |
| 5%-29% of people have these symptoms | ||
| Abnormal cartilage morphology |
Abnormal shape of cartilage
|
0002763 |
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
| Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ] |
0001680 |
| Dysostosis multiplex | 0000943 | |
| Hemiparesis |
Weakness of one side of body
|
0001269 |
| Hemiplegia |
Paralysis on one side of body
|
0002301 |
| Interrupted aortic arch | 0011611 | |
| Osteochondrosis | 0040188 | |
| Paralysis |
Inability to move
|
0003470 |
| Skeletal dysplasia | 0002652 | |
| Tetraplegia |
Paralysis of all four limbs
|
0002445 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal anterior chamber morphology | 0000593 | |
| Arachnoid cyst |
Fluid-filled sac located in membrane surrounding brain or spinal cord
|
0100702 |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
| Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
| Cortical dysplasia | 0002539 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
| Dandy-Walker malformation | 0001305 | |
| Eyelid coloboma |
Cleft eyelid
Notched eyelid
[ more ] |
0000625 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Hydronephrosis | 0000126 | |
| Hypoplasia of the corpus callosum |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| Hypoplasia of the iris |
Underdeveloped iris
|
0007676 |
| Limbal dermoid | 0001140 | |
| Linear hyperpigmentation | 0007546 | |
| Lipoma |
Fatty lump
Noncancerous fatty lump
[ more ] |
0012032 |
| Microphthalmia |
Abnormally small eyeball
|
0000568 |
| Multiple |
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
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