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Vitreoretinopathy with phalangeal epiphyseal dysplasia(VPED)

MedGen UID:
343940
Concept ID:
C1852989
Disease or Syndrome
Synonym: VPED
 
Gene (location): COL2A1 (12q13.11)
 
Monarch Initiative: MONDO:0031001
OMIM®: 619248

Definition

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]

Clinical features

From HPO
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Abnormal epiphysis morphology of the phalanges of the hand
MedGen UID:
867253
Concept ID:
C4021613
Anatomical Abnormality
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).
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Osteoarthritis, hip
MedGen UID:
14530
Concept ID:
C0029410
Disease or Syndrome
Osteoarthritis of the hip joint.
Lattice retinal degeneration
MedGen UID:
102321
Concept ID:
C0154856
Disease or Syndrome
Rhegmatogenous retinal detachment
MedGen UID:
489829
Concept ID:
C0271055
Finding
A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.

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