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.
Coxa valga- MedGen UID:
- 116080
- •Concept ID:
- C0239137
- •
- Finding
Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
Irregular patellae- MedGen UID:
- 324624
- •Concept ID:
- C1836870
- •
- Finding
An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour.
Osteoporotic metatarsal- MedGen UID:
- 324626
- •Concept ID:
- C1836873
- •
- Finding
Decrease in mass and density of the metatarsal bones.
Flat acetabular roof- MedGen UID:
- 373340
- •Concept ID:
- C1837485
- •
- Finding
Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.
Sclerotic humeral metaphysis- MedGen UID:
- 871045
- •Concept ID:
- C4025509
- •
- Disease or Syndrome
Severe short stature- MedGen UID:
- 3931
- •Concept ID:
- C0013336
- •
- Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Disproportionate short-limb short stature- MedGen UID:
- 342370
- •Concept ID:
- C1849937
- •
- Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Pectus carinatum- MedGen UID:
- 57643
- •Concept ID:
- C0158731
- •
- Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Dolichocephaly- MedGen UID:
- 65142
- •Concept ID:
- C0221358
- •
- Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Narrow greater sciatic notch- MedGen UID:
- 154353
- •Concept ID:
- C0566888
- •
- Finding
A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.
Broad ischia- MedGen UID:
- 324622
- •Concept ID:
- C1836868
- •
- Finding
Increased width of the ischium, which forms the lower and back part of the hip bone.
Osteoporotic tarsals- MedGen UID:
- 324625
- •Concept ID:
- C1836872
- •
- Finding
Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
Metaphyseal irregularity- MedGen UID:
- 325478
- •Concept ID:
- C1838662
- •
- Finding
Irregularity of the normally smooth surface of the metaphyses.
Hypoplasia of the capital femoral epiphysis- MedGen UID:
- 374176
- •Concept ID:
- C1839254
- •
- Finding
Underdevelopment of the proximal epiphysis of the femur.
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Metaphyseal widening- MedGen UID:
- 341364
- •Concept ID:
- C1849039
- •
- Finding
Abnormal widening of the metaphyseal regions of long bones.
Ovoid vertebral bodies- MedGen UID:
- 344549
- •Concept ID:
- C1855665
- •
- Finding
When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.
Enlargement of the costochondral junction- MedGen UID:
- 346535
- •Concept ID:
- C1857180
- •
- Finding
Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.
Metaphyseal sclerosis- MedGen UID:
- 765440
- •Concept ID:
- C3552526
- •
- Finding
Abnormally increased density of metaphyseal bone.
Irregular capital femoral epiphysis- MedGen UID:
- 866530
- •Concept ID:
- C4020825
- •
- Anatomical Abnormality
Irregular surface of the normally relatively smooth capital femoral epiphysis.
Costochondral joint sclerosis- MedGen UID:
- 867230
- •Concept ID:
- C4021588
- •
- Finding
Abnormal increase in density of the tissue at the costochondral junctions.
Spondylometaphyseal dysplasia- MedGen UID:
- 1674850
- •Concept ID:
- C4759767
- •
- Disease or Syndrome
A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localisation and severity of involvement of the affected metaphyses.
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Growth abnormality