Rare Oncology News

Disease Profile

Rapadilino syndrome

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

ageofonset-infancy.svg

ICD-10

Q87.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

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

rnn-autosomalrecessive.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Radial and patellar aplasia; Radial and patellar hypoplasia; Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;

Summary

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

Orpha Number: 3021

Definition
A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.

Epidemiology
Prevalence is unknown, but the disease is rare. It was first described in families originating from different parts of Finland, but non-Finnish cases were later identified.

Clinical description
Growth delay is both preand postnatal. It is aggravated by feeding problems and diarrhea of no known cause.

Etiology
RAPADILINO syndrome is caused by mutations of the RECQL4 gene, a member of the family of RecQ-helicase genes which are at the origin of diseases predisposing to cancer.

Differential diagnosis
Differential diagnoses include Rothmund-Thomson syndrome (RTS) and Baller-Gerold syndrome (see these terms), which show considerable overlap with RAPADILINO syndrome. Mutations of the RECQL4 gene have also been described for these syndromes.The presence of poikiloderma, a major symptom of RTS, distinguishes this syndrome from RAPADILINO. Radial hypoplasia or aplasia, which is constant in RAPADILINO syndrome, is occasional in RTS. Equally, the presence of craniosynostosis in Baller-Gerold syndrome differentiates it from RAPADILINO syndrome. The three syndromes predispose the risk of developing malign pathologies, although this is significantly greater for RTS (mainly osteosarcoma and cutaneous cancers). The clinical differences can be explained by phenotypegenotype correlation, in particular by preservation of helicases in RAPADLINO syndrome.

Genetic counseling
RAPADILINO syndrome is transmitted in an autosomal recessive manner.

Management and treatment
Orthopedic and nutritional management is recommended when needed and appropriate investigation is recommended in the event of signs suggestive of osteosarcoma.

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
Percent of people who have these symptoms is not available through HPO
Absent thumb
Absent thumbs
0009777
Aplasia/Hypoplasia of the patella
Absent/small kneecap
Absent/underdeveloped kneecap

[ more ]

0006498
Aplasia/Hypoplasia of the radius
0006501
Autosomal recessive inheritance
0000007
Blepharophimosis
Narrow opening between the eyelids
0000581
Cleft palate
Cleft roof of mouth
0000175
Diarrhea
Watery stool
0002014
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
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
Joint dislocation
Joint dislocations
Recurrent joint dislocations

[ more ]

0001373
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]

0000276
Mottled pigmentation
Mottled skin coloring
0001070
Narrow palpebral fissure
Small opening between the eyelids
0045025
Short chin
Decreased height of chin
Short lower third of face

[ more ]

0000331
Short stature
Decreased body height
Small stature

[ more ]

0004322
Slender nose
0000417
Stiff interphalangeal joints
Stiff hinge joints
0005198

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.

Where to Start

  • Genetics Home Reference contains information on Rapadilino syndrome. This website is maintained by the National Library of Medicine.

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 Rapadilino syndrome. Click on the link to view a sample search on this topic.