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).
Mesomelia- MedGen UID:
- 107808
- •Concept ID:
- C0549306
- •
- Congenital Abnormality
Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.
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.
Pes cavus- MedGen UID:
- 675590
- •Concept ID:
- C0728829
- •
- Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Metatarsus adductus- MedGen UID:
- 898667
- •Concept ID:
- C4082169
- •
- Anatomical Abnormality
The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
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).
Mesomelic short stature- MedGen UID:
- 340834
- •Concept ID:
- C1855274
- •
- Finding
A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Radial head subluxation- MedGen UID:
- 56213
- •Concept ID:
- C0149977
- •
- Injury or Poisoning
Partial dislocation of the head of the radius.
Radioulnar synostosis- MedGen UID:
- 57861
- •Concept ID:
- C0158761
- •
- Congenital Abnormality
An abnormal osseous union (fusion) between the radius and the ulna.
Tarsal synostosis- MedGen UID:
- 539393
- •Concept ID:
- C0265654
- •
- Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).
Metatarsal synostosis- MedGen UID:
- 349573
- •Concept ID:
- C1862697
- •
- Finding
Abnormality of the face- MedGen UID:
- 871375
- •Concept ID:
- C4025871
- •
- Anatomical Abnormality
An abnormality of the face.
Skin dimple- MedGen UID:
- 661955
- •Concept ID:
- C0578531
- •
- Finding
Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality