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Disease Profile

Oto-palato-digital syndrome type 2

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.

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331

US Estimated

514

Europe Estimated

Age of onset

Neonatal

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 2; Andre syndrome; OPD 2 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: 90652

Definition
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.

Epidemiology
To date, more than 40 cases of Otopalatodigital syndrome type 2 (OPD2) have been described in the literature.

Clinical description
OPD2 is a congenital disorder. Intrauterine growth is usually normal and affected infants have large anterior fontanels, and facial dysmorphism including broad forehead and lateral fullness of the supraorbital ridge, hypertelorism, downslanting palpebral fissures, stubby nose with a flat root, midfacial hypoplasia, microstomia (with typical down turned bow of the upper lip), micrognathia, Pierre Robin sequence, posterior cleft palate (submucosal cleft palate or cleft velum), glossoptosis, malformed and/or apparently low-set ears. Additional features include skeletal anomalies: pectus deformity, short limbs, campomelia, fibular agenesis, flexion contractures of elbows, knees, rocker bottom or equinovarus feet, syndactyly (usually involving fingers III and IV in the hands and toes II to V in the feet), camptodactyly of fingers, and absent halluces. Extraskeletal malformations include malformations of the central nervous system (myelomeningocele /encephalocele, cerebellar hypoplasia, hydrocephalus), heart (congenital valvular heart defects), intestine, genitourinary system (hydronephrosis ± urethral valve/reflux, hypospadias, epispadias). Congenital corneal opacities, bilobed tongue, deafness, and Dandy-Walker malformation have been reported in a minority of OPD2 cases. Congenital glaucoma and cataracts have been described in one patient. Psychomotor development varies from normal to mild intellectual disability. Carrier females with OPD2 can be asymptomatic or exhibit a phenotype that can extend from a mild subclinical osteodysplasia to a presentation indistinguishable from that of affected males. Prognosis of OPD2 is poor and perinatal death is common, secondary to cardio respiratory failure.

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

Genetic counseling
OPD2 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 are less severely affected.

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 pinna
Abnormally shaped ears
Auricular malformation
Deformed ears
Malformed ears

[ more ]

0000377
Anodontia
Failure of development of all teeth
0000674
Bowing of the long bones
Bowed long bones
Bowing of long bones

[ more ]

0006487
Broad forehead
Increased width of the forehead
Wide forehead

[ more ]

0000337
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
Large fontanelles
Wide fontanelles
0000239
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Malar flattening
Zygomatic flattening
0000272
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Narrow mouth
Small mouth
0000160
Oligodontia
Failure of development of more than six teeth
0000677
Prominent supraorbital ridges
Prominent brow
0000336
Pulmonary hypoplasia
Small lung
Underdeveloped lung

[ more ]

0002089
Short hallux
Short big toe
0010109
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Short thumb
Short thumbs
Small thumbs

[ more ]

0009778
Skeletal dysplasia
0002652
30%-79% of people have these symptoms
Abnormal cardiac septum morphology
0001671
Abnormal heart valve morphology
0001654
Abnormal vertebral segmentation and fusion
0005640
Abnormality of the metacarpal bones
Abnormality of the long bone of hand
0001163
Abnormality of the ribs
Rib abnormalities
0000772
Camptodactyly of finger
Permanent flexion of the finger
0100490
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum

[ more ]

0001321
Elbow dislocation
Dislocations of the elbows
Elbow dislocations

[ more ]

0003042
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Fibular aplasia
Absent calf bone
0002990
Flared iliac wings
0002869
Global developmental delay
0001263
Glossoptosis
Retraction of the tongue
0000162
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hydronephrosis
0000126
Hypoplastic frontal sinuses
0002738
Hypospadias
0000047
Increased bone mineral density
Increased bone density
0011001
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Omphalocele
0001539
Pierre-Robin sequence
0000201
Short palm
0004279
Thickened calvaria
Increased thickness of skull cap
Thickened skull cap

[ more ]

0002684
Ureteral obstruction
0006000
5%-29% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Developmental glaucoma
0001087
Encephalocele
0002084
Myelomeningocele
0002475
Preaxial polydactyly
0100258
Scoliosis
0002650
Synostosis of carpal bones
Fusion of wrist bones
0005048
Tarsal synostosis
Fused ankle bones
0008368
Percent of people who have these symptoms is not available through HPO
Broad face
Increased breadth of face
Increased width of face
Wide face

[ more ]

0000283
Broad hallux
Broad big toe
Wide big toe

[ more ]

0010055
Broad thumb
Broad thumbs
Wide/broad thumb

[ more ]

0011304
Bulbous tips of toes
0001782
Conductive hearing impairment

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

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