From HPO
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Cryptorchidism- MedGen UID:
- 8192
- •Concept ID:
- C0010417
- •
- Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
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).
Congenital vertical talus- MedGen UID:
- 66821
- •Concept ID:
- C0240912
- •
- Congenital Abnormality
Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by Dobbs et al., 2006).
Knee flexion contracture- MedGen UID:
- 98042
- •Concept ID:
- C0409355
- •
- Finding
A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.
Thumbs, congenital Clasped- MedGen UID:
- 98140
- •Concept ID:
- C0431886
- •
- Congenital Abnormality
In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
Flexion contracture of toe- MedGen UID:
- 237248
- •Concept ID:
- C1406835
- •
- Finding
One or more bent (flexed) toe joints that cannot be straightened actively or passively.
Ulnar deviation of the hand or of fingers of the hand- MedGen UID:
- 892857
- •Concept ID:
- C4048199
- •
- Finding
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.
Postnatal growth retardation- MedGen UID:
- 395343
- •Concept ID:
- C1859778
- •
- Finding
Slow or limited growth after birth.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Feeding difficulties in infancy- MedGen UID:
- 436211
- •Concept ID:
- C2674608
- •
- Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Spina bifida occulta- MedGen UID:
- 36380
- •Concept ID:
- C0080174
- •
- Congenital Abnormality
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
Abnormal auditory evoked potentials- MedGen UID:
- 141758
- •Concept ID:
- C0522216
- •
- Finding
An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.
Cerebellar atrophy- MedGen UID:
- 196624
- •Concept ID:
- C0740279
- •
- Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Hypoplasia of the brainstem- MedGen UID:
- 334226
- •Concept ID:
- C1842688
- •
- Finding
Underdevelopment of the brainstem.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
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.
Joint dislocation- MedGen UID:
- 41614
- •Concept ID:
- C0012691
- •
- Injury or Poisoning
Displacement or malalignment of joints.
Recurrent fractures- MedGen UID:
- 42094
- •Concept ID:
- C0016655
- •
- Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Hernia- MedGen UID:
- 6816
- •Concept ID:
- C0019270
- •
- Finding
The protrusion of part of an organ or fibroadipose tissue through an abnormal opening.
Inguinal hernia- MedGen UID:
- 6817
- •Concept ID:
- C0019294
- •
- Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Hip dislocation- MedGen UID:
- 42455
- •Concept ID:
- C0019554
- •
- Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
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.
Shoulder flexion contracture- MedGen UID:
- 592333
- •Concept ID:
- C0409336
- •
- Acquired Abnormality
Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.
Elbow flexion contracture- MedGen UID:
- 98367
- •Concept ID:
- C0409338
- •
- Acquired Abnormality
An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.
Wrist flexion contracture- MedGen UID:
- 592338
- •Concept ID:
- C0409345
- •
- Acquired Abnormality
A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
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.
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.
Flexion contracture of finger- MedGen UID:
- 387792
- •Concept ID:
- C1857304
- •
- Finding
Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.
Malar flattening- MedGen UID:
- 347616
- •Concept ID:
- C1858085
- •
- Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Recurrent respiratory infections- MedGen UID:
- 812812
- •Concept ID:
- C3806482
- •
- Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Malignant hyperthermia- MedGen UID:
- 1830388
- •Concept ID:
- C5779784
- •
- Pathologic Function
Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.
Hypernasal speech- MedGen UID:
- 107884
- •Concept ID:
- C0566620
- •
- Finding
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
Blepharophimosis- MedGen UID:
- 2670
- •Concept ID:
- C0005744
- •
- Congenital Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
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).
Dental crowding- MedGen UID:
- 11850
- •Concept ID:
- C0040433
- •
- Finding
Changes in alignment of teeth in the dental arch
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).
Mandibular prognathia- MedGen UID:
- 98316
- •Concept ID:
- C0399526
- •
- Finding
Abnormal prominence of the chin related to increased length of the mandible.
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.
Mask-like facies- MedGen UID:
- 140860
- •Concept ID:
- C0424448
- •
- Finding
A lack of facial expression often with staring eyes and a slightly open mouth.
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
Epicanthus- MedGen UID:
- 151862
- •Concept ID:
- C0678230
- •
- Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Pursed lips- MedGen UID:
- 371254
- •Concept ID:
- C1832130
- •
- Finding
An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.
Underdeveloped nasal alae- MedGen UID:
- 322332
- •Concept ID:
- C1834055
- •
- Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
Prominent forehead- MedGen UID:
- 373291
- •Concept ID:
- C1837260
- •
- Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Whistling appearance- MedGen UID:
- 338478
- •Concept ID:
- C1848473
- •
- Finding
An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Flat face- MedGen UID:
- 342829
- •Concept ID:
- C1853241
- •
- Finding
Absence of concavity or convexity of the face when viewed in profile.
Short nose- MedGen UID:
- 343052
- •Concept ID:
- C1854114
- •
- Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Chin with H-shaped crease- MedGen UID:
- 348588
- •Concept ID:
- C1860309
- •
- Anatomical Abnormality
H-shaped crease in the fat pad of the chin.
Long philtrum- MedGen UID:
- 351278
- •Concept ID:
- C1865014
- •
- Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Neck joint contracture- MedGen UID:
- 357889
- •Concept ID:
- C1867006
- •
- Anatomical Abnormality
Dimple chin- MedGen UID:
- 1370532
- •Concept ID:
- C4317152
- •
- Anatomical Abnormality
A persistent midline depression of the skin over the fat pad of the chin.
Abnormality of the skin- MedGen UID:
- 11449
- •Concept ID:
- C0037268
- •
- Congenital Abnormality
An abnormality of the skin.
Breech presentation- MedGen UID:
- 654
- •Concept ID:
- C0006157
- •
- Pathologic Function
A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.
Polyhydramnios- MedGen UID:
- 6936
- •Concept ID:
- C0020224
- •
- Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Oligohydramnios- MedGen UID:
- 86974
- •Concept ID:
- C0079924
- •
- Pathologic Function
Diminished amniotic fluid volume in pregnancy.
Decreased fetal movement- MedGen UID:
- 68618
- •Concept ID:
- C0235659
- •
- Finding
An abnormal reduction in quantity or strength of fetal movements.
Ptosis- MedGen UID:
- 2287
- •Concept ID:
- C0005745
- •
- Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Strabismus- MedGen UID:
- 21337
- •Concept ID:
- C0038379
- •
- Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Deeply set eye- MedGen UID:
- 473112
- •Concept ID:
- C0423224
- •
- Finding
An eye that is more deeply recessed into the plane of the face than is typical.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of prenatal development or birth
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Abnormality of the voice
- Constitutional symptom
- Ear malformation
- Growth abnormality