Spondylometaphyseal dysplasia with dentinogenesis imperfecta

Alternate names

Goldblatt syndrome; Odontochondrodysplasia; ODCD; Goldblatt chondrodysplasia

Definition

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

Epidemiology

To date, 11 patients have been reported.

Cause

The etiology is unknown.

Inheritance

Autosomal recessive inheritance, a 25% chance

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

Signs and symptoms

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

NIH genetic and rare disease info

• NIH info on Spondylometaphyseal dysplasia with dentinogenesis imperfecta

Spondylometaphyseal dysplasia with dentinogenesis imperfecta is a rare disease.

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