Rare Endocrinology News
Disease Profile
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
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 >
Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Goldblatt syndrome; Odontochondrodysplasia; ODCD;
Categories
Congenital and Genetic Diseases; Mouth Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 166272
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 | |
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 |
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 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
1%-4% of people have these symptoms | ||
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 | ||
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 |
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.