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Disease Profile

Oto-palato-digital syndrome type 1

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.

Unknown

Age of onset

-

ICD-10

Q87.0

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)

Otopalatodigital syndrome type 1; Taybi syndrome; OPD syndrome;

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: 90650

Definition
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.

Epidemiology
To date, more than 100 cases have been described in the world literature.

Clinical description
OPD1 is a congenital disorder characterized by generalized skeletal dysplasia which include camptodactyly, long spatulate fingers, short first digits (''tree frog'' hands and feet), pectus carinatum, mild campomelia, mild femoral bowing, limitation of joint movement (elbow extension, wrist abduction) and malformed auditory ossicles leading to conductive hearing loss in some individuals. Additional features include typical craniofacial anomalies (occipital prominence, frontal bossing with prominent supraorbital ridges, flat nasal bridge, hypertelorism, microstomia, dental abnormalities, and cleft palate (pugilistic face)). In affected females, a similar but usually milder spectrum of expressivity is observed.

Etiology
OPD1 is caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. However the pathogenesis of OPD1 is still elusive. OPD1 is allelic with 4 other skeletal dysplasias (OPD2, Melnick-Needles syndrome (MNS), terminal osseous dysplasia pigmentary defects (TOD) and frontometaphyseal dysplasia (FMD)).

Genetic counseling
OPD1 is inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression.

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
Anodontia
Failure of development of all teeth
0000674
Cleft palate
Cleft roof of mouth
0000175
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation

[ more ]

0001256
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion

[ more ]

0001376
Oligodontia
Failure of development of more than six teeth
0000677
Prominent supraorbital ridges
Prominent brow
0000336
Sandal gap
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe

[ more ]

0001852
Short hallux
Short big toe
0010109
Skeletal dysplasia
0002652
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431
30%-79% of people have these symptoms
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
0001163
Bowing of the long bones
Bowed long bones
Bowing of long bones

[ more ]

0006487
Elbow dislocation
Dislocations of the elbows
Elbow dislocations

[ more ]

0003042
Hypoplastic frontal sinuses
0002738
Increased bone mineral density
Increased bone density
0011001
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Short distal phalanx of finger
Short outermost finger bone
0009882
Short palm
0004279
Short thumb
Short thumbs
Small thumbs

[ more ]

0009778
Thickened calvaria
Increased thickness of skull cap
Thickened skull cap

[ more ]

0002684
5%-29% of people have these symptoms
Abnormal vertebral segmentation and fusion
0005640
Abnormality of the tarsal bones
Abnormal ankle bones
0001850
Synostosis of carpal bones
Fusion of wrist bones
0005048
Percent of people who have these symptoms is not available through HPO
Abnormality of the fifth metatarsal bone
Abnormality of the 5th long bone of foot
0008089
Absent frontal sinuses
0002688
Accessory carpal bones
0004232
Bipartite calcaneus
0008127
Broad distal phalanx of the thumb
Broad outermost bone of the thumb
Wide outermost bone of thumb

[ more ]

0009642
Broad hallux
Broad big toe
Wide big toe

[ more ]

0010055
Bulbous tips of toes
0001782
Capitate-hamate fusion
0001241
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Coxa valga
0002673
Delayed closure of the anterior fontanelle
Later than typical closing of soft spot of skull
0001476
Dislocated radial head
0003083
Flat face
Flat facial shape
0012368
Frontal bossing
0002007
Hip dislocation
Dislocated hips
Dislocation of hip

[ more ]

0002827
Lateral femoral bowing
0005090
Limited elbow extension
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension

[ more ]

0001377
Limited knee flexion
0006389
Malar flattening
Zygomatic flattening
0000272
Multiple impacted teeth
Impacted teeth
0001571
Nail dysplasia
Atypical nail growth
0002164
Nail dystrophy
Poor nail formation
0008404
Narrow mouth
Small mouth
0000160
Omphalocele
0001539
Pectus excavatum
Funnel chest
0000767
Prominent occiput
Prominent back of the skull
Prominent posterior skull

[ more ]

0000269
Scoliosis
0002650
Selective tooth agenesis
0001592
Short 3rd metacarpal
Shortened 3rd long bone of hand
0010041
Short 4th metacarpal
Shortened 4th long bone of hand
0010044
Short 5th metacarpal
Shortened 5th long bone of hand
0010047
Short nose

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 Oto-palato-digital syndrome type 1. Click on the link to view a sample search on this topic.

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