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).
Short thumb- MedGen UID:
- 98469
- •Concept ID:
- C0431890
- •
- Congenital Abnormality
Hypoplasia (congenital reduction in size) of the thumb.
Hip subluxation- MedGen UID:
- 140946
- •Concept ID:
- C0434785
- •
- Injury or Poisoning
A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.
Radial deviation of the hand- MedGen UID:
- 108280
- •Concept ID:
- C0575803
- •
- Finding
An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).
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.
Acetabular dysplasia- MedGen UID:
- 233069
- •Concept ID:
- C1328407
- •
- Anatomical Abnormality
A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.
Fibular hypoplasia- MedGen UID:
- 316909
- •Concept ID:
- C1832119
- •
- Finding
Underdevelopment of the fibula.
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.
Short 5th finger- MedGen UID:
- 334269
- •Concept ID:
- C1842878
- •
- Congenital Abnormality
Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.
Small thenar eminence- MedGen UID:
- 335432
- •Concept ID:
- C1846474
- •
- Finding
Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.
Clinodactyly of the 5th finger- MedGen UID:
- 340456
- •Concept ID:
- C1850049
- •
- Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Short tibia- MedGen UID:
- 338005
- •Concept ID:
- C1850259
- •
- Finding
Underdevelopment (reduced size) of the tibia.
4-5 metacarpal synostosis- MedGen UID:
- 395341
- •Concept ID:
- C1859768
- •
- Anatomical Abnormality
Small hypothenar eminence- MedGen UID:
- 396124
- •Concept ID:
- C1861395
- •
- Finding
Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.
Mesomelic arm shortening- MedGen UID:
- 350587
- •Concept ID:
- C1862087
- •
- Finding
Shortening of the middle parts of the arm in relation to the upper and terminal segments.
Proximal placement of thumb- MedGen UID:
- 356033
- •Concept ID:
- C1865572
- •
- Finding
Proximal mislocalization of the thumb.
Short hallux- MedGen UID:
- 400890
- •Concept ID:
- C1865992
- •
- Finding
Underdevelopment (hypoplasia) of the big toe.
Mesomelic leg shortening- MedGen UID:
- 369436
- •Concept ID:
- C1969178
- •
- Finding
Shortening of the middle parts of the leg in relation to the upper and terminal segments.
Tibial deviation of toes- MedGen UID:
- 812863
- •Concept ID:
- C3806533
- •
- Finding
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).
Feeding difficulties- MedGen UID:
- 65429
- •Concept ID:
- C0232466
- •
- Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
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.
Protruding ear- MedGen UID:
- 343309
- •Concept ID:
- C1855285
- •
- Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Delayed speech and language development- MedGen UID:
- 105318
- •Concept ID:
- C0454644
- •
- Finding
A degree of language development that is significantly below the norm for a child of a specified age.
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.
Hip dislocation- MedGen UID:
- 42455
- •Concept ID:
- C0019554
- •
- Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Cleft mandible- MedGen UID:
- 146346
- •Concept ID:
- C0685786
- •
- Finding
Midline deficiency of the mandible and some or all overlying tissues.
Microretrognathia- MedGen UID:
- 326907
- •Concept ID:
- C1839546
- •
- Finding
A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Abnormal aryepiglottic fold morphology- MedGen UID:
- 340304
- •Concept ID:
- C1849357
- •
- Anatomical Abnormality
An abnormality of the aryepiglottic fold.
Aplasia of the epiglottis- MedGen UID:
- 870194
- •Concept ID:
- C4024628
- •
- Finding
Absence of the epiglottis.
Abnormality of the voice- MedGen UID:
- 867406
- •Concept ID:
- C4021776
- •
- Finding
Narrow mouth- MedGen UID:
- 44435
- •Concept ID:
- C0026034
- •
- Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Isolated Pierre-Robin syndrome- MedGen UID:
- 19310
- •Concept ID:
- C0031900
- •
- Congenital Abnormality
Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulties during the neonatal period (summary by Tan et al., 2013).
High palate- MedGen UID:
- 66814
- •Concept ID:
- C0240635
- •
- Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Prominent nose- MedGen UID:
- 98423
- •Concept ID:
- C0426415
- •
- Finding
Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
Cleft lower alveolar ridge- MedGen UID:
- 336582
- •Concept ID:
- C1849350
- •
- Finding
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).
Agenesis of mandibular central incisor- MedGen UID:
- 870605
- •Concept ID:
- C4025054
- •
- Anatomical Abnormality
Agenesis of lower secondary incisor or lower primary incisor.
Bifid uvula- MedGen UID:
- 1646931
- •Concept ID:
- C4551488
- •
- Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the digestive system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Abnormality of the voice
- Ear malformation
- Growth abnormality