Rare Ophthalmology News

Disease Profile

Cranioectodermal dysplasia

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

Q87.5

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)

Levin syndrome 1; Sensenbrenner syndrome

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Lung Diseases;

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1515

Definition
Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

Epidemiology
To date, 20 cases have been reported in the literature.

Clinical description
CED is primarily characterized by an abnormal development of bones (i.e. craniosynostosis/dolichocephaly, narrow thorax, pectus excavatum, rhizomelic micromelia, brachydactyly, syndactyly, clinodactyly, hyperextensible joints), and ectodermal defects such as dental anomalies (reduced enamel thickness, hypodontia, microdontia, taurodontism, malformations of the cusps), sparse hair, and abnormal finger and toe nails. Dysmorphic features are observed such as epicanthic folds, hypotelorism, anteverted nares, and everted lower lip. Patients frequently develop chronic renal failure due to nephronophthisis, usually between the ages of 2 and 6. Liver involvement (hepatic fibrosis) can also be observed. Recurrent lung infections, heart defects and ocular anomalies (nystagmus, myopia, retinal dystrophy, and particularly retinitis pigmentosa) are also possible in the course of the disease.

Etiology
CED is a heterogenous condition belonging to the ciliopathy group of diseases and is due to mutations in the IFT122, IFT43, WDR19 and WDR35 genes involved in intraflagellar transport (IFT). This genetic background explains the pleiotropic phenotype of CED that includes manifestations of several ciliopathies.

Diagnostic methods
Diagnosis is based on clinical examination. Imagery (ultrasonography), laboratory findings (urine analysis, serum electrolytes, and lipid profile), histological examination and liver and renal function tests allow detection of potential renal and liver anomalies. Ocular anomalies can be detected by eye fundus and electroretinography.

Differential diagnosis
Differential diagnosis of CED includes Jeune syndrome (see this term) from which it can be distinguished by the presence of craniosynostosis, and skin and dental dysplasia. CED also overlaps with Ellis van Creveld syndrome (see this term) which also shows ectodermal defects and narrow thorax.

Genetic counseling
In most cases, transmission is autosomal recessive.

Management and treatment
In many cases, renal function rapidly deteriorates, requiring treatment of metabolic acidosis, oral sodium chloride supplementation, then dialysis or renal transplantation in case of end-stage renal failure.

Prognosis
Prognosis depends on renal, heart and lung defects which can be life threatening.

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
Abnormal diaphysis morphology
Abnormal shape of shaft of long bone
Abnormality of shaft of long bone of the limbs

[ more ]

0000940
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails

[ more ]

0001231
Abnormal toenail morphology
Abnormality of the toenail
Abnormality of the toenails

[ more ]

0008388
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Brachydactyly
Short fingers or toes
0001156
Dolichocephaly
Long, narrow head
Tall and narrow skull

[ more ]

0000268
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Frontal bossing
0002007
Microdontia
Decreased width of tooth
0000691
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Osteoporosis
0000939
Prominent occiput
Prominent back of the skull
Prominent posterior skull

[ more ]

0000269
Rhizomelia
Disproportionately short upper portion of limb
0008905
Short distal phalanx of finger
Short outermost finger bone
0009882
Sparse hair
0008070
30%-79% of people have these symptoms
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Craniosynostosis
0001363
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip

[ more ]

0000232
Finger syndactyly
0006101
Hypodontia
Failure of development of between one and six teeth
0000668
Hypotelorism
Abnormally close eyes
Closely spaced eyes

[ more ]

0000601
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Pectus excavatum
Funnel chest
0000767
5%-29% of people have these symptoms
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality

[ more ]

0000682
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
High hypermetropia
Severe farsightedness
Severe long-sightedness

[ more ]

0008499
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Taurodontia
0000679
1%-4% of people have these symptoms
Triphalangeal hallux
0032612
Percent of people who have these symptoms is not available through HPO
Abnormality of the abdominal wall
0004298
Anodontia
Failure of development of all teeth
0000674
Autosomal recessive inheritance
0000007
Bicuspid aortic valve
Aortic valve has two leaflets rather than three
0001647
Broad distal phalanges of all fingers
Broad outermost hand bones
0009880
Broad toe
Wide toe
0001837
Chronic kidney disease
0012622
Clinodactyly
Permanent curving of the finger
0030084
Ectodermal dysplasia
0000968
Fibular hypoplasia
Short calf bone
0003038
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture

[ more ]

0002213
Flattened epiphysis
Flat end part of bone
0003071
Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks

[ more ]

0000293
Hepatic cysts
Liver cysts
0001407
Hepatic failure
Liver failure
0001399
Hepatic fibrosis
0001395
Hepatomegaly
Enlarged liver
0002240
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Hypocalcemia
Low blood calcium levels
0002901
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness

[ more ]

0001388
Malformation of the hepatic ductal plate
0006563
Protuberant abdomen
Belly sticks out
Extended belly

[ more ]

0001538
Radial deviation of finger
0009466
Renal magnesium wasting
0005567
Retinal dystrophy
Breakdown of light-sensitive cells in back of eye
0000556
Sagittal craniosynostosis
Early closure of midline skull joint
Midline skull joint closes early

[ more ]

0004442
Scaphocephaly

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      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

        In-Depth Information

        • Medscape Reference provides information on ectodermal dysplasias. 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 Cranioectodermal dysplasia. Click on the link to view a sample search on this topic.

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