Chondrodysplasia Blomstrand

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Chondrodysplasia Blomstrand
Autosomal recessive - en.svg
Synonyms Blomstrand chondrodysplasia
Pronounce N/A
Specialty N/A
Symptoms Short stature, skeletal dysplasia, premature ossification
Complications N/A
Onset Prenatal
Duration Lifelong
Types N/A
Causes Mutations in the PTHR1 gene
Risks Consanguinity
Diagnosis Genetic testing, prenatal ultrasound
Differential diagnosis Thanatophoric dysplasia, achondroplasia
Prevention N/A
Treatment Supportive care
Medication N/A
Prognosis Poor, often lethal in infancy
Frequency Rare
Deaths N/A


A rare genetic disorder affecting bone development


Chondrodysplasia Blomstrand is a rare genetic disorder characterized by abnormal bone development and dwarfism. It is a form of chondrodysplasia, which refers to a group of disorders that affect the development of cartilage and bone.

Genetics[edit | edit source]

Chondrodysplasia Blomstrand is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The condition is caused by mutations in the PTH1R gene, which encodes the parathyroid hormone receptor type 1. This receptor is crucial for normal bone and cartilage development.

Pathophysiology[edit | edit source]

The PTH1R gene mutations lead to a dysfunctional receptor, which impairs the normal signaling pathways necessary for bone growth and development. This results in the premature ossification of cartilage, leading to the characteristic features of the disorder, such as dwarfism, facial dysmorphism, and skeletal abnormalities.

Clinical Features[edit | edit source]

Individuals with Chondrodysplasia Blomstrand typically present with severe dwarfism, macrocephaly, and midface hypoplasia. Other features may include:

Diagnosis[edit | edit source]

Diagnosis of Chondrodysplasia Blomstrand is based on clinical evaluation, family history, and genetic testing to identify mutations in the PTH1R gene. Radiographic imaging can reveal characteristic skeletal abnormalities, such as advanced bone age and abnormal ossification patterns.

Management[edit | edit source]

There is currently no cure for Chondrodysplasia Blomstrand. Management focuses on supportive care and addressing specific symptoms. This may include:

Prognosis[edit | edit source]

The prognosis for individuals with Chondrodysplasia Blomstrand is generally poor, with many affected individuals not surviving beyond infancy due to severe respiratory complications and other systemic issues.

See also[edit | edit source]

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Contributors: Prab R. Tumpati, MD