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Disease Profile

Spondylometaphyseal dysplasia with dentinogenesis imperfecta

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

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ICD-10

Q78.8

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)

Goldblatt syndrome; Odontochondrodysplasia; ODCD;

Categories

Congenital and Genetic Diseases; Mouth Diseases; Musculoskeletal Diseases

Summary

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

Orpha Number: 166272

Definition
Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.

Epidemiology
To date, 11 patients have been reported.

Clinical description
Chondrodysplasia is characterized by mesomelic limb shortening, joint laxity, platyspondyly with coronal clefts, brachydactyly and coxa valga. The affected patients have no intellectual deficit.

Etiology
The etiology is unknown.

Genetic counseling
The condition is most probably hereditary, transmitted as an autosomal recessive trait.

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 metaphysis
Abnormality of the wide portion of a long bone
0000944
Cone-shaped epiphysis
Cone-shaped end part of bone
0010579
Dentinogenesis imperfecta
0000703
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Micromelia
Smaller or shorter than typical limbs
0002983
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Platyspondyly
Flattened vertebrae
0000926
Short palm
0004279
Short stature
Decreased body height
Small stature

[ more ]

0004322
30%-79% of people have these symptoms
Coxa valga
0002673
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Scoliosis
0002650
Square pelvis bone
0003278
5%-29% of people have these symptoms
Bowing of the long bones
Bowed long bones
Bowing of long bones

[ more ]

0006487
Death in infancy
Lethal in infancy
Infantile death

[ more ]

0001522
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
Frontal bossing
0002007
Patent ductus arteriosus
0001643
Respiratory distress
Breathing difficulties
Difficulty breathing

[ more ]

0002098
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
1%-4% of people have these symptoms
Brachydactyly
Short fingers or toes
0001156
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Nephronophthisis
0000090
Pulmonary hypoplasia
Small lung
Underdeveloped lung

[ more ]

0002089
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Spondylometaphyseal dysplasia
0002657
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Biconvex vertebral bodies
0004625
Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped end part of finger bones
0010230
Coronal cleft vertebrae
0003417
Delayed ossification of carpal bones
0001216
Flared iliac wings
0002869
Flat acetabular roof
0003180
Genu recurvatum
Back knee
Knee hyperextension

[ more ]

0002816
Genu varum
Outward bow-leggedness
Outward bowing at knees

[ more ]

0002970
Irregular epiphyses
Irregular end part of long bone
0010582
Joint hypermobility
Double-Jointed
Flexible joints
Increased mobility of joints

[ more ]

0001382
Long philtrum
0000343
Mesomelia
Disproportionately short middle portion of limb
0003027
Mesomelic short stature
0008845
Metaphyseal cupping
0003021
Metaphyseal widening
Broad wide portion of long bone
0003016
Motor delay
0001270
Narrow face
Decreased breadth of face
Decreased width of face

[ more ]

0000275
Osteoporosis
0000939
Pectus carinatum
Pigeon chest
0000768
Polycystic kidney dysplasia
0000113
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Relative macrocephaly
Relatively large head
0004482
Short long bone
Long bone shortening
0003026
Short metacarpal
Shortened long bone of hand
0010049
Short phalanx of finger
Short finger bones
0009803
Small epiphyses
Small end part of bone
0010585

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 Spondylometaphyseal dysplasia with dentinogenesis imperfecta. Click on the link to view a sample search on this topic.