Chondrodysplasia Blomstrand type
- Synonyms
- Blomstrand lethal osteochondrodysplasia; Blomstrand's lethal chondrodysplasia
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (36 available)
Clinical features
Help- Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Depressed nasal bridge
- Abnormality of limbs
- Advanced ossification of carpal bones
Advanced ossification of carpal bones
- MedGen UID: 341422
- Concept ID: C1849292
- Finding: Finding
Abnormality of limbs
- Micromelia
Micromelia
- MedGen UID: 10031
- Concept ID: C0025995
- Finding: Congenital Abnormality
Abnormality of limbs
- Advanced ossification of carpal bones
- Abnormality of prenatal development or birth
- Fetal ascites
Fetal ascites
- MedGen UID: 226930
- Concept ID: C1285291
- Finding: Disease or Syndrome
Abnormality of prenatal development or birth
- Hydrops fetalis
Hydrops fetalis
- MedGen UID: 6947
- Concept ID: C0020305
- Finding: Disease or Syndrome
Abnormality of prenatal development or birth
- Polyhydramnios
Polyhydramnios
- MedGen UID: 6936
- Concept ID: C0020224
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Premature birth
Premature birth
- MedGen UID: 57721
- Concept ID: C0151526
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Fetal ascites
- Abnormality of the cardiovascular system
- Preductal coarctation of the aorta
Preductal coarctation of the aorta
- MedGen UID: 539555
- Concept ID: C0265878
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Preductal coarctation of the aorta
- Abnormality of the musculoskeletal system
- Abnormal vertebral morphology
Abnormal vertebral morphology
- MedGen UID: 371742
- Concept ID: C1834129
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Accelerated skeletal maturation
Accelerated skeletal maturation
- MedGen UID: 154262
- Concept ID: C0545053
- Finding: Finding
Abnormality of the musculoskeletal system
- Advanced tarsal ossification
Advanced tarsal ossification
- MedGen UID: 376557
- Concept ID: C1849293
- Finding: Finding
Abnormality of the musculoskeletal system
- Flared metaphysis
Flared metaphysis
- MedGen UID: 337976
- Concept ID: C1850135
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized osteosclerosis
Generalized osteosclerosis
- MedGen UID: 375162
- Concept ID: C1843331
- Finding: Finding
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Narrow chest
Narrow chest
- MedGen UID: 96528
- Concept ID: C0426790
- Finding: Finding
Abnormality of the musculoskeletal system
- Short ribs
Short ribs
- MedGen UID: 98094
- Concept ID: C0426817
- Finding: Finding
Abnormality of the musculoskeletal system
- Squared iliac bones
Squared iliac bones
- MedGen UID: 324963
- Concept ID: C1838186
- Finding: Finding
Abnormality of the musculoskeletal system
- Abnormal vertebral morphology
- Abnormality of the respiratory system
- Laryngeal calcification
Laryngeal calcification
- MedGen UID: 347811
- Concept ID: C1859158
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Laryngeal calcification
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