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Spinal dysplasia, Anhalt type

MedGen UID:
318632
Concept ID:
C1832464
Disease or Syndrome
Synonym: Spinal Dysplasia, Anhalt Type
 
Monarch Initiative: MONDO:0011040
OMIM®: 601344

Clinical features

From HPO
Osteoarthritis of the small joints of the hand
MedGen UID:
870919
Concept ID:
C4025381
Disease or Syndrome
Coxa vara
MedGen UID:
1790477
Concept ID:
C5551440
Anatomical Abnormality
Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
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).
Thoracic hemivertebrae
MedGen UID:
98142
Concept ID:
C0432152
Congenital Abnormality
Absence of one half of the vertebral body in the thoracic spine.
Thoracolumbar scoliosis
MedGen UID:
196671
Concept ID:
C0749379
Anatomical Abnormality
Narrow anterio-posterior vertebral body diameter
MedGen UID:
867182
Concept ID:
C4021540
Finding
An abnormal reduction of the anterioposterior diameter of the vertebral body.
Spinal dysplasia
MedGen UID:
867475
Concept ID:
C4021853
Disease or Syndrome
The presence of developmental dysplasia of the vertebral column.
Absent spinous processes of lower thoracic and lumbar vertebrae
MedGen UID:
870233
Concept ID:
C4024671
Anatomical Abnormality

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