Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Alternate names[edit | edit source]
Goldblatt syndrome; Odontochondrodysplasia; ODCD; Goldblatt chondrodysplasia
Definition[edit | edit source]
Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.
Epidemiology[edit | edit source]
To date, 11 patients have been reported.
Cause[edit | edit source]
The etiology is unknown.
Inheritance[edit | edit source]
The condition is most probably hereditary, transmitted as an autosomal recessive trait.
Signs and symptoms[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Abnormality of the metaphysis(Abnormality of the wide portion of a long bone)
- Cone-shaped epiphysis(Cone-shaped end part of bone)
- Dentinogenesis imperfecta
- Joint hyperflexibility(Joints move beyond expected range of motion)
- Micromelia(Smaller or shorter than typical limbs)
- Narrow chest(Low chest circumference)
- Platyspondyly(Flattened vertebrae)
- Short palm
- Short stature(Decreased body height)
30%-79% of people have these symptoms
- Coxa valga
- Delayed eruption of teeth(Delayed eruption)
- Scoliosis
- Square pelvis bone
5%-29% of people have these symptoms
- Bowing of the long bones(Bowed long bones)
- Death in infancy(Infantile death)
- Depressed nasal bridge(Depressed bridge of nose)
- Frontal bossing
- Patent ductus arteriosus
- Respiratory distress(Breathing difficulties)
- Retrognathia(Receding chin)
- Short nose(Decreased length of nose)
- Strabismus(Cross-eyed)
1%-4% of people have these symptoms
- [[Brachydactyly](Short fingers or toes)
- Macrocephaly(Increased size of skull)
- Nephronophthisis
- Pulmonary hypoplasia(Small lung)
- Recurrent respiratory infections(Frequent respiratory infections)
- Spondylometaphyseal dysplasia
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Spondylometaphyseal dysplasia with dentinogenesis imperfecta is a rare disease.
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