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Thanatophoric dysplasia, Glasgow variant

MedGen UID:
376457
•Concept ID:
C1848865
•
Disease or Syndrome
Synonym: Neonatally lethal short-limb skeletal dysplasia, glasgow type
 
Monarch Initiative: MONDO:0010114
OMIM®: 273680
Orphanet: ORPHA93275

Clinical features

From HPO
Micromelia
MedGen UID:
10031
•Concept ID:
C0025995
•
Congenital Abnormality
The presence of abnormally small extremities.
See: Feature record | Search on this feature
Hepatosplenomegaly
MedGen UID:
9225
•Concept ID:
C0019214
•
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
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Anemia
MedGen UID:
1526
•Concept ID:
C0002871
•
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
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Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
Cataract
MedGen UID:
39462
•Concept ID:
C0086543
•
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant.
Connor JM, Connor RA, Sweet EM, Gibson AA, Patrick WJ, McNay MB, Redford DH
Am J Med Genet 1985 Oct;22(2):243-53. doi: 10.1002/ajmg.1320220205. PMID: 3901754

Diagnosis

Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant.
Connor JM, Connor RA, Sweet EM, Gibson AA, Patrick WJ, McNay MB, Redford DH
Am J Med Genet 1985 Oct;22(2):243-53. doi: 10.1002/ajmg.1320220205. PMID: 3901754

Prognosis

Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant.
Connor JM, Connor RA, Sweet EM, Gibson AA, Patrick WJ, McNay MB, Redford DH
Am J Med Genet 1985 Oct;22(2):243-53. doi: 10.1002/ajmg.1320220205. PMID: 3901754

Clinical prediction guides

Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant.
Connor JM, Connor RA, Sweet EM, Gibson AA, Patrick WJ, McNay MB, Redford DH
Am J Med Genet 1985 Oct;22(2):243-53. doi: 10.1002/ajmg.1320220205. PMID: 3901754

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