From HPO
Pes planus- MedGen UID:
- 42034
- •Concept ID:
- C0016202
- •
- Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Hypertelorism- MedGen UID:
- 9373
- •Concept ID:
- C0020534
- •
- Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Spasticity- MedGen UID:
- 7753
- •Concept ID:
- C0026838
- •
- Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Alternating esotropia- MedGen UID:
- 57515
- •Concept ID:
- C0152205
- •
- Disease or Syndrome
Esotropia in which either eye may be used for fixation.
Joint contracture of the hand- MedGen UID:
- 56382
- •Concept ID:
- C0158113
- •
- Finding
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Cubitus valgus- MedGen UID:
- 490152
- •Concept ID:
- C0158465
- •
- Acquired Abnormality
Abnormal positioning in which the elbows are turned out.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Downslanted palpebral fissures- MedGen UID:
- 98391
- •Concept ID:
- C0423110
- •
- Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Telecanthus- MedGen UID:
- 140836
- •Concept ID:
- C0423113
- •
- Finding
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Broad nasal tip- MedGen UID:
- 98424
- •Concept ID:
- C0426429
- •
- Finding
Increase in width of the nasal tip.
Submucous cleft hard palate- MedGen UID:
- 98472
- •Concept ID:
- C0432103
- •
- Congenital Abnormality
Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
Camptodactyly- MedGen UID:
- 195780
- •Concept ID:
- C0685409
- •
- Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Pes cavus- MedGen UID:
- 675590
- •Concept ID:
- C0728829
- •
- Congenital Abnormality
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Frontal upsweep of hair- MedGen UID:
- 452910
- •Concept ID:
- C1185616
- •
- Finding
Upward and/or sideward growth of anterior hair.
Radial deviation of finger- MedGen UID:
- 322852
- •Concept ID:
- C1836189
- •
- Finding
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
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.
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Agenesis of central incisor- MedGen UID:
- 381532
- •Concept ID:
- C1855000
- •
- Finding
Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor.
Radial bowing- MedGen UID:
- 347136
- •Concept ID:
- C1859399
- •
- Anatomical Abnormality
A bending or abnormal curvature of the radius.
Hypoplasia of the ulna- MedGen UID:
- 395934
- •Concept ID:
- C1860614
- •
- Congenital Abnormality
Underdevelopment of the ulna.
Broad uvula- MedGen UID:
- 786050
- •Concept ID:
- C3693299
- •
- Finding
Increased width of the uvula (subjective finding).
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Agenesis of maxillary central incisor- MedGen UID:
- 870617
- •Concept ID:
- C4025068
- •
- Finding
Agenesis of upper secondary incisor or of upper central primary incisor.
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.
Clinodactyly- MedGen UID:
- 1644094
- •Concept ID:
- C4551485
- •
- Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).