Rare Pulmonology 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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.
orphanet

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 developmental delay
0001263
Intellectual disability
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
Seizure
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 corpus callosum
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
Neoplasm of the skeletal system
Skeletal tumor
0010622
Nevus flammeus
port-wine stain
0001052
Osteolysis
Breakdown of bone
0002797
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Rigidity
Muscle rigidity
0002063
Spasticity
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
Hydrocephalus
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 central nervous system lipomas

Learn more

These 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

  • Genetics Home Reference (GHR) contains information on Encephalocraniocutaneous lipomatosis. This website is maintained by the National Library of Medicine.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Encephalocraniocutaneous lipomatosis. Click on the link to view a sample search on this topic.

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