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Polydactyly myopia syndrome(PMS)

MedGen UID:
357424
Concept ID:
C1868117
Disease or Syndrome
Synonyms: Czeizel Brooser syndrome; Postaxial Polydactyly with progressive myopia; Postaxial polydactyly-progressive myopia syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 174310
Orphanet: ORPHA2917

Clinical features

Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Postaxial hand polydactyly
MedGen UID:
892379
Concept ID:
C2112130
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Postaxial hand polydactyly
MedGen UID:
892379
Concept ID:
C2112130
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPolydactyly myopia syndrome
Follow this link to review classifications for Polydactyly myopia syndrome in Orphanet.

Recent clinical studies

Etiology

Scalais E, Verloes A, Sacré JP, Piérard GE, Rizzo WB
Pediatr Neurol 1992 Nov-Dec;8(6):459-65. PMID: 1476577

Diagnosis

Scalais E, Verloes A, Sacré JP, Piérard GE, Rizzo WB
Pediatr Neurol 1992 Nov-Dec;8(6):459-65. PMID: 1476577

Prognosis

Scalais E, Verloes A, Sacré JP, Piérard GE, Rizzo WB
Pediatr Neurol 1992 Nov-Dec;8(6):459-65. PMID: 1476577

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