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1.

Vitreoretinopathy with phalangeal epiphyseal dysplasia

Vitreoretinopathy with phalangeal epiphyseal dysplasia (VPED) is an autosomal dominant disorder characterized by rhegmatogenous retinal detachment, premature arthropathy, and development of phalangeal epiphyseal dysplasia, resulting in brachydactyly. Stature is normal, and high myopia, cleft palate, and midfacial hypoplasia are absent (Richards et al., 2002). [from OMIM]

MedGen UID:
343940
Concept ID:
C1852989
Disease or Syndrome
2.

Abnormal epiphysis morphology of the phalanges of the hand

Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). [from HPO]

MedGen UID:
867253
Concept ID:
C4021613
Anatomical Abnormality

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