From HPO
Glabellar hemangioma- MedGen UID:
- 340224
- •Concept ID:
- C1854408
- •
- Neoplastic Process
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).
Ulnar deviation of finger- MedGen UID:
- 68543
- •Concept ID:
- C0231679
- •
- Finding
Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Hitchhiker thumb- MedGen UID:
- 609206
- •Concept ID:
- C0431887
- •
- Congenital Abnormality
With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.
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.
Short finger- MedGen UID:
- 334977
- •Concept ID:
- C1844548
- •
- Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Small for gestational age- MedGen UID:
- 65920
- •Concept ID:
- C0235991
- •
- Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
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.
Neonatal short-limb short stature- MedGen UID:
- 337984
- •Concept ID:
- C1850171
- •
- Finding
A type of short-limbed dwarfism that is manifest beginning in the neonatal period.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Hypertrophic auricular cartilage- MedGen UID:
- 341738
- •Concept ID:
- C1857263
- •
- Finding
Cystic lesions of the pinnae- MedGen UID:
- 869294
- •Concept ID:
- C4023720
- •
- Disease or Syndrome
Spinal cord compression- MedGen UID:
- 11549
- •Concept ID:
- C0037926
- •
- Disease or Syndrome
External mechanical compression of the spinal cord.
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.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Hip contracture- MedGen UID:
- 140815
- •Concept ID:
- C0409354
- •
- Acquired Abnormality
Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
Kyphoscoliosis- MedGen UID:
- 154361
- •Concept ID:
- C0575158
- •
- Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Cervical kyphosis- MedGen UID:
- 107898
- •Concept ID:
- C0575170
- •
- Finding
Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.
Patellar dislocation- MedGen UID:
- 253896
- •Concept ID:
- C1135812
- •
- Injury or Poisoning
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
Lumbar hyperlordosis- MedGen UID:
- 263149
- •Concept ID:
- C1184923
- •
- Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Hypoplastic cervical vertebrae- MedGen UID:
- 372079
- •Concept ID:
- C1835570
- •
- Finding
Irregular epiphyses- MedGen UID:
- 337584
- •Concept ID:
- C1846449
- •
- Finding
An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.
Short long bone- MedGen UID:
- 344385
- •Concept ID:
- C1854912
- •
- Finding
One or more abnormally short long bone.
Costal cartilage calcification- MedGen UID:
- 344533
- •Concept ID:
- C1855608
- •
- Finding
Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax.
Flattened epiphysis- MedGen UID:
- 387844
- •Concept ID:
- C1857527
- •
- Finding
Abnormal flatness (decreased height) of epiphyses.
Laryngotracheal stenosis- MedGen UID:
- 812610
- •Concept ID:
- C3806280
- •
- Finding
Hoarse voice- MedGen UID:
- 5602
- •Concept ID:
- C0019825
- •
- Sign or Symptom
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
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).
Short chin- MedGen UID:
- 784514
- •Concept ID:
- C3697248
- •
- Finding
Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
Nevus flammeus- MedGen UID:
- 65911
- •Concept ID:
- C0235752
- •
- Congenital Abnormality
A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Abnormality of the voice
- Ear malformation
- Growth abnormality
- Neoplasm