From HPO
Short femur- MedGen UID:
- 87499
- •Concept ID:
- C0345375
- •
- Congenital Abnormality
An abnormal shortening of the femur.
Postaxial hand polydactyly- MedGen UID:
- 609221
- •Concept ID:
- C0431904
- •
- Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Hypoplasia of the radius- MedGen UID:
- 672334
- •Concept ID:
- C0685381
- •
- Congenital Abnormality
Underdevelopment of the radius.
Short phalanx of finger- MedGen UID:
- 163753
- •Concept ID:
- C0877165
- •
- Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Pes valgus- MedGen UID:
- 299028
- •Concept ID:
- C1578482
- •
- Anatomical Abnormality
An outward deviation of the foot at the talocalcaneal or subtalar joint.
Short humerus- MedGen UID:
- 316907
- •Concept ID:
- C1832117
- •
- Congenital Abnormality
Underdevelopment of the humerus.
Fibular hypoplasia- MedGen UID:
- 316909
- •Concept ID:
- C1832119
- •
- Finding
Underdevelopment of the fibula.
Aplasia/Hypoplasia involving the metacarpal bones- MedGen UID:
- 322855
- •Concept ID:
- C1836192
- •
- Finding
Aplasia or Hypoplasia affecting the metacarpal bones.
Short foot- MedGen UID:
- 376415
- •Concept ID:
- C1848673
- •
- Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Short tibia- MedGen UID:
- 338005
- •Concept ID:
- C1850259
- •
- Finding
Underdevelopment (reduced size) of the tibia.
Valgus hand deformity- MedGen UID:
- 348042
- •Concept ID:
- C1860179
- •
- Finding
Aplasia/Hypoplasia of metatarsal bones- MedGen UID:
- 348560
- •Concept ID:
- C1860182
- •
- Finding
Absence or underdevelopment of the metatarsal bones.
Hypoplasia of the ulna- MedGen UID:
- 395934
- •Concept ID:
- C1860614
- •
- Congenital Abnormality
Underdevelopment of the ulna.
Acromesomelia- MedGen UID:
- 350410
- •Concept ID:
- C1864365
- •
- Finding
Small hands and feet.
Patella aplasia/hypoplasia- MedGen UID:
- 358246
- •Concept ID:
- C1868577
- •
- Finding
Absence or underdevelopment of the patella.
Short digit- MedGen UID:
- 893063
- •Concept ID:
- C4023124
- •
- Finding
One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.
Distal tibiofibular synostosis- MedGen UID:
- 1052766
- •Concept ID:
- CN377482
- •
- Finding
Fusion of the distal (i.e.., located away from the trunk) part of the tibia and fibula.
Fibular torsion- MedGen UID:
- 1053443
- •Concept ID:
- CN378273
- •
- Finding
Excessively rotated (also called torsion) position of the fibula (calf bone). An increased external rotation of the fibula in the incisura tibiofibularis of more than 5 degrees may lead to an increased pressure and will negatively affect the cartilage.
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.
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.
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.
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality