From HPO
Tibial bowing- MedGen UID:
- 332360
- •Concept ID:
- C1837081
- •
- Finding
A bending or abnormal curvature of the tibia.
Short metacarpal- MedGen UID:
- 323064
- •Concept ID:
- C1837084
- •
- Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Femoral retroversion- MedGen UID:
- 375866
- •Concept ID:
- C1846339
- •
- Congenital Abnormality
An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing).
Radial bowing- MedGen UID:
- 347136
- •Concept ID:
- C1859399
- •
- Anatomical Abnormality
A bending or abnormal curvature of the radius.
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.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Dentinogenesis imperfecta- MedGen UID:
- 8313
- •Concept ID:
- C0011436
- •
- Congenital Abnormality
Developmental dysplasia of dentin.
Recurrent fractures- MedGen UID:
- 42094
- •Concept ID:
- C0016655
- •
- Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Inguinal hernia- MedGen UID:
- 6817
- •Concept ID:
- C0019294
- •
- Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Kyphosis- MedGen UID:
- 44042
- •Concept ID:
- C0022821
- •
- Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Osteopenia- MedGen UID:
- 18222
- •Concept ID:
- C0029453
- •
- Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Vertebral compression fracture- MedGen UID:
- 75497
- •Concept ID:
- C0262431
- •
- Finding
Barrel-shaped chest- MedGen UID:
- 120497
- •Concept ID:
- C0264172
- •
- Finding
A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.
Thin ribs- MedGen UID:
- 98095
- •Concept ID:
- C0426818
- •
- Finding
Ribs with a reduced diameter.
Decreased skull ossification- MedGen UID:
- 609330
- •Concept ID:
- C0432073
- •
- Congenital Abnormality
A reduction in the magnitude or amount of ossification of the skull.
Slender long bone- MedGen UID:
- 331446
- •Concept ID:
- C1833144
- •
- Finding
Reduced diameter of a long bone.
Decreased calvarial ossification- MedGen UID:
- 322270
- •Concept ID:
- C1833762
- •
- Finding
Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Joint hypermobility- MedGen UID:
- 336793
- •Concept ID:
- C1844820
- •
- Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Multiple prenatal fractures- MedGen UID:
- 377844
- •Concept ID:
- C1853171
- •
- Finding
The presence of bone fractures in the prenatal period that are diagnosed at birth or before.
Femoral bowing- MedGen UID:
- 347888
- •Concept ID:
- C1859461
- •
- Finding
Bowing (abnormal curvature) of the femur.
Wide anterior fontanel- MedGen UID:
- 400926
- •Concept ID:
- C1866134
- •
- Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.
Type 1 collagen overmodification- MedGen UID:
- 370919
- •Concept ID:
- C1970463
- •
- Finding
Wormian bones- MedGen UID:
- 766814
- •Concept ID:
- C3553900
- •
- Congenital Abnormality
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Round face- MedGen UID:
- 116087
- •Concept ID:
- C0239479
- •
- Finding
The facial appearance is more circular than usual as viewed from the front.
Proptosis- MedGen UID:
- 41917
- •Concept ID:
- C0015300
- •
- Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality