Orofaciodigital syndrome 6

Title

Other Names:

Joubert syndrome with orofaciodigital defect; OFD6; Oral-facial-digital syndrome type 6; Joubert syndrome with orofaciodigital defect; OFD6; Oral-facial-digital syndrome type 6; Polydactyly - cleft lip/palate - psychomotor retardation; Váradi syndrome; Váradi-Papp syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Orofaciodigital syndrome type 6; Polydactyly cleft lip palate psychomotor retardation See More

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases; Musculoskeletal Diseases; Nervous System 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: 2754

Definition

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

Epidemiology

Prevalence is unknown.

Clinical description

Typical oral findings include bifid or lobulated tongue, lingual hamartomas and multiple oral frenulae, but cleft lip and/or palate can also be present. Polydactyly is typically mesaxial with Y-shaped metacarpals, but can also be preaxial or postaxial. A subset of patients present with hypothalamic hamartoma that has never been reported in other JSRD subgroups.

Etiology

Two OFD6 patients, including one fetus, were found to carry a homozygous mutation in the TMEM216 gene (11q13.1), but mutations in this gene were excluded in several other patients, and the genetic basis of this condition still remains elusive.

Genetic counseling

Males and females are equally affected and an autosomal recessive pattern of inheritance was observed in familial cases.

Visit the Orphanet disease page for more resources.

Last updated: 7/1/2011

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
30%-79% of people have these symptoms
Abnormal oral frenulum morphology		0000190
Ataxia		0001251
Bilateral cryptorchidism		0008689
Biparietal narrowing		0004422
Brachydactyly	Short fingers or toes	0001156
Broad nasal tip	Broad tip of nose Broad, upturned nose Increased breadth of nasal tip Increased breadth of tip of nose Increased width of nasal tip Increased width of tip of nose Nasal tip, broad Nasal tip, wide Wide tip of nose [ more ]	0000455
Cleft palate	Cleft roof of mouth	0000175
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Esotropia	Inward turning cross eyed	0000565
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Feeding difficulties in infancy		0008872
Finger clinodactyly		0040019
Frontal bossing		0002007
Gait disturbance	Abnormal gait Abnormal walk Impaired gait [ more ]	0001288
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Global developmental delay		0001263
Hamartoma of tongue		0011802
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypoplasia of olfactory tract		0007036
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Lobulated tongue	Bumpy tongue	0000180
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
Low-set, posteriorly rotated ears		0000368
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Molar tooth sign on MRI		0002419
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Preaxial polydactyly		0100258
Short stature	Decreased body height Small stature [ more ]	0004322
Syndactyly	Webbed fingers or toes	0001159
Tongue nodules		0000199
5%-29% of people have these symptoms
Abnormal heart morphology	Abnormality of the heart Abnormally shaped heart [ more ]	0001627
Abnormality of neuronal migration		0002269
Aplasia/Hypoplasia of the corpus callosum		0007370
Apnea		0002104
Central Y-shaped metacarpal	Y-shaped central long bones of hand	0006145
Cerebellar vermis hypoplasia		0001320
Episodic tachypnea		0002876
Foot polydactyly	Duplication of bones of the toes	0001829
Hand polydactyly	Extra finger	0001161
Highly arched eyebrow	Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Thick, flared eyebrows [ more ]	0002553
Hypothalamic hamartoma		0002444
Mesoaxial polydactyly		0100260
Midline notch of upper alveolar ridge		0009084
Prominent nasal bridge	Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ]	0000426
Renal agenesis	Absent kidney Missing kidney [ more ]	0000104
Seizures	Seizure	0001250
Tremor	Tremors	0001337

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2020

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Organizations 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

Joubert Syndrome & Related Disorders Foundation (JSRDF)
9 Dorenfeld CT
Petaluma, CA 94952
Telephone: +1-614-864-1362
E-mail: info@jsrdf.org
Website: https://jsrdf.org/

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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.
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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