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Spondyloepiphyseal dysplasia with punctate corneal dystrophy

MedGen UID:
357119
•Concept ID:
C1866727
•
Disease or Syndrome
Synonym: Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
 
Monarch Initiative: MONDO:0008470
OMIM®: 183850
Orphanet: ORPHA163673

Clinical features

From HPO
Spondyloepiphyseal dysplasia
MedGen UID:
20916
•Concept ID:
C0038015
•
Finding
A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
Punctate corneal dystrophy
MedGen UID:
870352
•Concept ID:
C4024796
•
Anatomical Abnormality
See: Feature record | Search on this feature
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Recent clinical studies

Diagnosis

A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils.
Byers PH, Holbrook KA, Hall JG, Bornstein P, Chandler JW
Hum Genet 1978 Jan 19;40(2):157-69. doi: 10.1007/BF00272296. PMID: 414988

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