From HPO
Urinary incontinence- MedGen UID:
- 22579
- •Concept ID:
- C0042024
- •
- Finding
Loss of the ability to control the urinary bladder leading to involuntary urination.
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).
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).
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).
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
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.
Posteriorly rotated ears- MedGen UID:
- 96566
- •Concept ID:
- C0431478
- •
- Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Dysarthria- MedGen UID:
- 8510
- •Concept ID:
- C0013362
- •
- Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
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.
Hyperreflexia- MedGen UID:
- 57738
- •Concept ID:
- C0151889
- •
- Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Delayed ability to walk- MedGen UID:
- 66034
- •Concept ID:
- C0241726
- •
- Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
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.
Inability to walk- MedGen UID:
- 107860
- •Concept ID:
- C0560046
- •
- Finding
Incapability to ambulate.
Absent speech- MedGen UID:
- 340737
- •Concept ID:
- C1854882
- •
- Finding
Complete lack of development of speech and language abilities.
Ventriculomegaly- MedGen UID:
- 480553
- •Concept ID:
- C3278923
- •
- Finding
An increase in size of the ventricular system of the brain.
Oculomotor apraxia- MedGen UID:
- 483686
- •Concept ID:
- C3489733
- •
- Disease or Syndrome
Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.
Delayed CNS myelination- MedGen UID:
- 867393
- •Concept ID:
- C4021758
- •
- Anatomical Abnormality
Delayed myelination in the central nervous system.
Brain atrophy- MedGen UID:
- 1643639
- •Concept ID:
- C4551584
- •
- Disease or Syndrome
Partial or complete wasting (loss) of brain tissue that was once present.
Hip dislocation- MedGen UID:
- 42455
- •Concept ID:
- C0019554
- •
- Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Kyphosis- MedGen UID:
- 44042
- •Concept ID:
- C0022821
- •
- Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Brachycephaly- MedGen UID:
- 113165
- •Concept ID:
- C0221356
- •
- Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
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.
Facial palsy- MedGen UID:
- 87660
- •Concept ID:
- C0376175
- •
- Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
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.
Achilles tendon contracture- MedGen UID:
- 98052
- •Concept ID:
- C0410264
- •
- Anatomical Abnormality
A contracture of the Achilles tendon.
Narrow chest- MedGen UID:
- 96528
- •Concept ID:
- C0426790
- •
- Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Weakness of facial musculature- MedGen UID:
- 98103
- •Concept ID:
- C0427055
- •
- Disease or Syndrome
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Distal muscle weakness- MedGen UID:
- 140883
- •Concept ID:
- C0427065
- •
- Finding
Reduced strength of the musculature of the distal extremities.
Microretrognathia- MedGen UID:
- 326907
- •Concept ID:
- C1839546
- •
- Finding
A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Limited shoulder movement- MedGen UID:
- 341979
- •Concept ID:
- C1851313
- •
- Finding
A limitation of the range of movement of the shoulder joint.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Drooling- MedGen UID:
- 8484
- •Concept ID:
- C0013132
- •
- Finding
Habitual flow of saliva out of the mouth.
High forehead- MedGen UID:
- 65991
- •Concept ID:
- C0239676
- •
- Finding
An abnormally increased height of the forehead.
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
Anteverted nares- MedGen UID:
- 326648
- •Concept ID:
- C1840077
- •
- Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
U-Shaped upper lip vermilion- MedGen UID:
- 383857
- •Concept ID:
- C1856202
- •
- Finding
Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.
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.
Downturned corners of mouth- MedGen UID:
- 356471
- •Concept ID:
- C1866195
- •
- Anatomical Abnormality
A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.
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).
Polyhydramnios- MedGen UID:
- 6936
- •Concept ID:
- C0020224
- •
- Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Fetal akinesia deformation sequence 1- MedGen UID:
- 220903
- •Concept ID:
- C1276035
- •
- Disease or Syndrome
Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).
Wide intermamillary distance- MedGen UID:
- 473489
- •Concept ID:
- C1827524
- •
- Finding
A larger than usual distance between the left and right nipple.
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).
Hypermetropia- MedGen UID:
- 43780
- •Concept ID:
- C0020490
- •
- Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
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 prenatal development or birth
- Abnormality of the breast
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Ear malformation
- Growth abnormality