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Disease Profile

Syndactyly Cenani Lenz type

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

Infancy

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ICD-10

Q78.4

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)

Cenani-Lenz type syndactyly; Cenani syndactylism; Syndactyly type 7

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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

Orpha Number: 3258

Definition
Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

Epidemiology
Fewer than 30 cases have been described and the exact incidence has not been evaluated. The majority of cases occurred in related families.

Clinical description
Classical CLS is characterized by the almost symmetrical presence of a total fusion of fingers and synostosis of the hand bones, giving the hands a mitten-like appearance. A variant of the syndrome, with oligodactyly and partial syndactyly, has been reported. The following features characterize the syndrome: carpal, metacarpal and digital synostoses, disorganization of the carpal bones, numeric reduction of the digital rays and toe syndactyly. Other features are radioulnar synostosis with shortening of the radius and ulna, brachymesomelia, radius head dislocation and metatarsal synostoses. The syndrome affects both the upper and lower limbs but, in general, the latter are less severely affected. Associated malformations (renal hypoplasia and vertebral and hemivertebral anomalies) have occasionally been reported. A few publications associate CLS with other, more frequent, forms of syndactyly. Mild facial dysmorphism (ptosis, high-arched palate, high, broad and prominent forehead, hypertelorism, flat nasal bridge, down slanting palpebral fissures, short nose, short prominent philtrum and malar hypoplasia) has been described in isolated cases.

Etiology
The disease is transmitted as an autosomal recessive trait. Homozygous or compound heterozygous mutations of the LRP4 gene (11p12-p11.2) have been identified. A heterozygous duplication of 1.7 Mb covering the GREM1 and FMN1 genes has also been reported in a CLS-like form of the syndrome.

Diagnostic methods
Diagnosis is essentially clinical.

Differential diagnosis
CLS can be distinguished clinically from other limb malformations.

Antenatal diagnosis
Diagnosis can be suspected antenatally by ultrasonography. As an autosomal recessive syndrome, recurrence risk for CLS is 25% for a subsequent pregnancy.

Management and treatment
Surgical treatment with reconstruction of an individualized finger is recommended but the functional results of syndactyly release may be unsatisfactory.

Prognosis
Functional prognosis depends on the specific limb anomalies of the patient.

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
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
0001163
Absent fingernail
0001817
Finger syndactyly
0006101
Frontal bossing
0002007
Synostosis of carpal bones
Fusion of wrist bones
0005048
30%-79% of people have these symptoms
Absent toenail
0001802
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypoplasia of the radius
Underdeveloped outer large forearm bone
0002984
Hypoplasia of the ulna
Underdeveloped inner large forearm bone
0003022
Radioulnar synostosis
Fused forearm bones
0002974
Short thumb
Short thumbs
Small thumbs

[ more ]

0009778
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770
5%-29% of people have these symptoms
Abnormal dermatoglyphics
Abnormal fingerprints
0007477
Abnormal form of the vertebral bodies
0003312
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality

[ more ]

0000682
Abnormality of the ribs
Rib abnormalities
0000772
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Convex nasal ridge
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity

[ more ]

0000444
Crossed fused renal ectopia
0004736
Ectropion
Eyelid turned out
0000656
Elbow dislocation
Dislocations of the elbows
Elbow dislocations

[ more ]

0003042
Foot oligodactyly
Missing toes
0001849
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
High, narrow palate
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth

[ more ]

0002705
Hip dislocation
Dislocated hips
Dislocation of hip

[ more ]

0002827
Hypodontia
Failure of development of between one and six teeth
0000668
Hypothyroidism
Underactive thyroid
0000821
Laryngomalacia
Softening of voice box tissue
0001601
Malar flattening
Zygomatic flattening
0000272
Micromelia
Smaller or shorter than typical limbs
0002983
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
Ptosis
Drooping upper eyelid
0000508
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney

[ more ]

0008678
Scoliosis
0002650
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Short philtrum
0000322
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Renal agenesis
Absent kidney
Missing kidney

[ more ]

0000104
Renal hypoplasia
Small kidneys
Underdeveloped kidneys

[ more ]

0000089
Syndactyly
Webbed fingers or toes
0001159

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.

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.

In-Depth Information

  • 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 Syndactyly Cenani Lenz type. Click on the link to view a sample search on this topic.