Oliver syndrome

Title

Other Names:

Postaxial polydactyly-intellectual disability syndrome

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Skin Diseases See More

Summary Summary

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

Orpha Number: 2920

Disease definition

Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.

Epidemiology

To date, seven individuals in three families have been reported.

Clinical description

Facial features are not characteristic except for a prominent jaw. Concordant features in all subjects are postaxial polydactyly, which in four individuals affect also the feet, and intellectual deficit, which is usually severe, with absent or indistinct speech. Seizures are common with onset in the first months of life or in early childhood. Cutaneous syndactyly, camptodactyly and clinodactyly of fingers and brachydactyly and syndactyly of the toes have been recorded.

Genetic counseling

The condition is probably hereditary, and transmitted as an autosomal recessive trait.

Visit the Orphanet disease page for more resources.

Last updated: 3/10/2010

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Intellectual disability, profound	IQ less than 20	0002187
Postaxial hand polydactyly	Extra little finger Extra pinkie finger Extra pinky finger [ more ]	0001162
30%-79% of people have these symptoms
Absent speech	Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ]	0001344
Cutaneous finger syndactyly	Webbed fingers Webbed skin of fingers [ more ]	0010554
Generalized tonic-clonic seizures	Grand mal seizures	0002069
Mandibular prognathia	Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ]	0000303
Poor speech		0002465
Postaxial foot polydactyly	Extra toe attached near the little toe	0001830
Short toe	Short toes Stubby toes [ more ]	0001831
5%-29% of people have these symptoms
Absent earlobe	Earlobe, absent Lobeless ears [ more ]	0000387
Camptodactyly of finger	Permanent flexion of the finger	0100490
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Dental malocclusion	Bad bite Malalignment of upper and lower dental arches Misalignment of upper and lower dental arches [ more ]	0000689
Elbow flexion contracture	Contractures of elbows Elbow contracture Elbow contractures [ more ]	0002987
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hyperconvex fingernails		0001812
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Knee flexion contracture		0006380
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Prominent fingertip pads	Prominent finger pads	0001212
Scoliosis	Abnormal curving of the spine	0002650
Short philtrum		0000322
Small earlobe	Small earlobes	0000385
Supernumerary nipple	Accessory nipple	0002558
Thick eyebrow	Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ]	0000574
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249

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Last updated: 6/1/2019

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Diagnosis 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

Orphanet lists international laboratories offering diagnostic testing for this condition.

Learn More 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.

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