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Arthrogryposis, distal, type 2E

MedGen UID:
343844
Concept ID:
C1852597
Disease or Syndrome
Synonym: Contractures of fingers and jaw
 
Monarch Initiative: MONDO:0007364
OMIM®: 121070

Clinical features

From HPO
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Absent antihelix
MedGen UID:
869031
Concept ID:
C4023448
Anatomical Abnormality
No discernible ridge between concha and triangular fossa and helix.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Trismus
MedGen UID:
21671
Concept ID:
C0041105
Disease or Syndrome
Limitation in the ability to open the mouth.
Joint contracture of the hand
MedGen UID:
56382
Concept ID:
C0158113
Finding
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Distal arthrogryposis
MedGen UID:
120512
Concept ID:
C0265213
Disease or Syndrome
An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.
Foot joint contracture
MedGen UID:
575403
Concept ID:
C0343149
Anatomical Abnormality
Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Mild microcephaly
MedGen UID:
332294
Concept ID:
C1836806
Congenital Abnormality
Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).

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