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.
Genu valgum- MedGen UID:
- 154364
- •Concept ID:
- C0576093
- •
- Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
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.
Short finger- MedGen UID:
- 334977
- •Concept ID:
- C1844548
- •
- Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Hyperplasia of the femoral trochanters- MedGen UID:
- 478750
- •Concept ID:
- C3277120
- •
- Finding
Flared humeral metaphysis- MedGen UID:
- 892657
- •Concept ID:
- C4020912
- •
- Anatomical Abnormality
Flaring (increase of width with a splayed appearance) of the humeral metaphysis.
Dumbbell-shaped femur- MedGen UID:
- 870603
- •Concept ID:
- C4025052
- •
- Anatomical Abnormality
The femur is shortened and displays flaring (widening) of the metaphyses.
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.
Peripheral axonal neuropathy- MedGen UID:
- 266071
- •Concept ID:
- C1263857
- •
- Disease or Syndrome
An abnormality characterized by disruption of the normal functioning of peripheral axons.
Kyphosis- MedGen UID:
- 44042
- •Concept ID:
- C0022821
- •
- Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Flexion contracture- MedGen UID:
- 83069
- •Concept ID:
- C0333068
- •
- Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Epiphyseal dysplasia- MedGen UID:
- 95932
- •Concept ID:
- C0392476
- •
- Congenital Abnormality
Narrow chest- MedGen UID:
- 96528
- •Concept ID:
- C0426790
- •
- Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Short ribs- MedGen UID:
- 98094
- •Concept ID:
- C0426817
- •
- Finding
Reduced rib length.
Delayed skeletal maturation- MedGen UID:
- 108148
- •Concept ID:
- C0541764
- •
- Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
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.
Kyphoscoliosis- MedGen UID:
- 154361
- •Concept ID:
- C0575158
- •
- Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Metaphyseal irregularity- MedGen UID:
- 325478
- •Concept ID:
- C1838662
- •
- Finding
Irregularity of the normally smooth surface of the metaphyses.
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Disproportionate short-trunk short stature- MedGen UID:
- 337580
- •Concept ID:
- C1846435
- •
- Finding
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
Odontoid hypoplasia- MedGen UID:
- 339524
- •Concept ID:
- C1846439
- •
- Finding
The odontoid process, or dens, is a bony projection from the axis (C2) upward into the ring of the atlas (C1) at the top of the spine. During embryogenesis, the body of the odontoid derives from the centrum of the atlas and separates from the atlas, fusing with the superior portion of the axis. If the odontoid is hypoplastic or absent, the attachments for the apical and alar ligaments are missing, allowing for excessive rotation of the atlas, craniocervical instability, and possibly cord compression (summary by Stevens et al., 2009).
Flared metaphysis- MedGen UID:
- 337976
- •Concept ID:
- C1850135
- •
- Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Flaring of rib cage- MedGen UID:
- 381496
- •Concept ID:
- C1854780
- •
- Finding
The presence of wide, concave anterior rib ends.
Anisospondyly- MedGen UID:
- 387741
- •Concept ID:
- C1857101
- •
- Finding
Abnormally increased variability of the size of the vertebral bodies.
Enlarged joints- MedGen UID:
- 347068
- •Concept ID:
- C1859111
- •
- Finding
Increase in size of one or more joints.
Cone-shaped epiphysis- MedGen UID:
- 351282
- •Concept ID:
- C1865037
- •
- Finding
Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.
Cupped ribs- MedGen UID:
- 351284
- •Concept ID:
- C1865039
- •
- Finding
Wide, concave rib end.
Flared iliac wing- MedGen UID:
- 356097
- •Concept ID:
- C1865841
- •
- Finding
Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.
Relatively short spine- MedGen UID:
- 478744
- •Concept ID:
- C3277114
- •
- Finding
Long coccyx- MedGen UID:
- 478746
- •Concept ID:
- C3277116
- •
- Finding
Caudal appendage- MedGen UID:
- 478747
- •Concept ID:
- C3277117
- •
- Finding
The presence of a tail-like skin appendage located adjacent to the sacrum.
Halberd-shaped pelvis- MedGen UID:
- 478749
- •Concept ID:
- C3277119
- •
- Finding
An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).
Dumbbell-shaped metaphyses- MedGen UID:
- 478753
- •Concept ID:
- C3277123
- •
- Finding
Absent primary metaphyseal spongiosa- MedGen UID:
- 478756
- •Concept ID:
- C3277126
- •
- Finding
Abnormal metaphyseal vascular invasion- MedGen UID:
- 478757
- •Concept ID:
- C3277127
- •
- Finding
Abnormal enchondral ossification- MedGen UID:
- 871155
- •Concept ID:
- C4025628
- •
- Anatomical Abnormality
An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.
Flared femoral metaphysis- MedGen UID:
- 871197
- •Concept ID:
- C4025674
- •
- Anatomical Abnormality
Clavicular pseudarthrosis- MedGen UID:
- 1814348
- •Concept ID:
- C5676779
- •
- Pathologic Function
A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint).
Arthrogryposis multiplex congenita- MedGen UID:
- 1830310
- •Concept ID:
- C5779613
- •
- Disease or Syndrome
Multiple congenital contractures in different body areas.
Crescent-shaped iliac bone- MedGen UID:
- 1054883
- •Concept ID:
- CN377485
- •
- Finding
Deficient mineralization of the iliac wings, giving a paraglider/crescent shape to the iliac bone.
Respiratory insufficiency- MedGen UID:
- 11197
- •Concept ID:
- C0035229
- •
- Pathologic Function
Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.
Respiratory failure- MedGen UID:
- 257837
- •Concept ID:
- C1145670
- •
- Disease or Syndrome
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
High forehead- MedGen UID:
- 65991
- •Concept ID:
- C0239676
- •
- Finding
An abnormally increased height of the forehead.
Depressed nasal bridge- MedGen UID:
- 373112
- •Concept ID:
- C1836542
- •
- Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Decreased fetal movement- MedGen UID:
- 68618
- •Concept ID:
- C0235659
- •
- Finding
An abnormal reduction in quantity or strength of fetal movements.
Fetal akinesia deformation sequence 1- MedGen UID:
- 220903
- •Concept ID:
- C1276035
- •
- Disease or Syndrome
Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of prenatal development or birth
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Growth abnormality