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).
Micromelia- MedGen UID:
- 10031
- •Concept ID:
- C0025995
- •
- Congenital Abnormality
The presence of abnormally small extremities.
Short femur- MedGen UID:
- 87499
- •Concept ID:
- C0345375
- •
- Congenital Abnormality
An abnormal shortening of the femur.
Short humerus- MedGen UID:
- 316907
- •Concept ID:
- C1832117
- •
- Congenital Abnormality
Underdevelopment of the humerus.
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.
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.
Radial bowing- MedGen UID:
- 347136
- •Concept ID:
- C1859399
- •
- Anatomical Abnormality
A bending or abnormal curvature of the radius.
Bowed humerus- MedGen UID:
- 395269
- •Concept ID:
- C1859460
- •
- Finding
A bending or abnormal curvature of the humerus.
Ulnar bowing- MedGen UID:
- 356099
- •Concept ID:
- C1865847
- •
- Finding
Bending of the diaphysis (shaft) of the ulna.
Disproportionate short stature- MedGen UID:
- 168053
- •Concept ID:
- C0878659
- •
- Finding
A kind of short stature in which different regions of the body are shortened to differing extents.
Low-set ears- MedGen UID:
- 65980
- •Concept ID:
- C0239234
- •
- Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Lateral clavicle hook- MedGen UID:
- 98426
- •Concept ID:
- C0426805
- •
- Finding
An excessive upward convexity of the lateral clavicle.
Thoracic hypoplasia- MedGen UID:
- 373339
- •Concept ID:
- C1837482
- •
- Congenital Abnormality
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Anterior rib cupping- MedGen UID:
- 337520
- •Concept ID:
- C1846154
- •
- Finding
Wide, concave anterior rib end.
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.
Limitation of joint mobility- MedGen UID:
- 341696
- •Concept ID:
- C1857108
- •
- Finding
A reduction in the freedom of movement of one or more joints.
Femoral bowing- MedGen UID:
- 347888
- •Concept ID:
- C1859461
- •
- Finding
Bowing (abnormal curvature) of the femur.
Undulate ribs- MedGen UID:
- 409776
- •Concept ID:
- C1969185
- •
- Finding
An abnormally wavy surface or edge of the ribs.
Dumbbell-shaped humerus- MedGen UID:
- 870802
- •Concept ID:
- C4025259
- •
- Anatomical Abnormality
The humerus is shortened and displays flaring (widening) of the metaphyses.
Cleft upper lip- MedGen UID:
- 40327
- •Concept ID:
- C0008924
- •
- Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
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.
Flat face- MedGen UID:
- 342829
- •Concept ID:
- C1853241
- •
- Finding
Absence of concavity or convexity of the face when viewed in profile.
Cleft palate- MedGen UID:
- 756015
- •Concept ID:
- C2981150
- •
- Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Pterygium- MedGen UID:
- 46202
- •Concept ID:
- C0033999
- •
- Finding
Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Ear malformation
- Growth abnormality