From HPO
Erlenmeyer flask deformity of the femurs- MedGen UID:
- 383796
- •Concept ID:
- C1855895
- •
- Finding
Flaring of distal femur.
Club-shaped distal femur- MedGen UID:
- 346601
- •Concept ID:
- C1857505
- •
- Finding
An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.
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.
Tinnitus- MedGen UID:
- 52760
- •Concept ID:
- C0040264
- •
- Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
Mixed hearing impairment- MedGen UID:
- 102336
- •Concept ID:
- C0155552
- •
- Disease or Syndrome
A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.
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).
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Narrow internal auditory canal- MedGen UID:
- 868969
- •Concept ID:
- C4023383
- •
- Finding
Reduction in diameter of the internal auditory canal.
Incus ankylosis- MedGen UID:
- 1054522
- •Concept ID:
- CN378419
- •
- Finding
Incus ankylosis refers to congenital or acquired fixation of the incus, which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).
Hydrocephalus- MedGen UID:
- 9335
- •Concept ID:
- C0020255
- •
- Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Prominence of the zygomatic bone- MedGen UID:
- 507285
- •Concept ID:
- C0375511
- •
- Anatomical Abnormality
Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'.
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.
Intervertebral disk calcification- MedGen UID:
- 451050
- •Concept ID:
- C0410607
- •
- Disease or Syndrome
The presence of abnormal calcium deposition of the intervertebral disk.
Cranial hyperostosis- MedGen UID:
- 318629
- •Concept ID:
- C1832451
- •
- Finding
Excessive growth of the bones of cranium, i.e., of the skull.
Thin bony cortex- MedGen UID:
- 318844
- •Concept ID:
- C1833325
- •
- Finding
Abnormal thinning of the cortical region of bones.
Metaphyseal widening- MedGen UID:
- 341364
- •Concept ID:
- C1849039
- •
- Finding
Abnormal widening of the metaphyseal regions of long bones.
Flared metaphysis- MedGen UID:
- 337976
- •Concept ID:
- C1850135
- •
- Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Sclerosis of skull base- MedGen UID:
- 377095
- •Concept ID:
- C1851714
- •
- Finding
Increased bone density of the skull base without significant changes in bony contour.
Calvarial osteosclerosis- MedGen UID:
- 340927
- •Concept ID:
- C1855657
- •
- Finding
An increase in bone density affecting the calvaria (roof of the skull).
Thickened calvaria- MedGen UID:
- 346823
- •Concept ID:
- C1858452
- •
- Finding
The presence of an abnormally thick calvaria.
Small foramen magnum- MedGen UID:
- 348813
- •Concept ID:
- C1861217
- •
- Finding
An abnormal narrowing of the foramen magnum.
Macrocephaly- MedGen UID:
- 745757
- •Concept ID:
- C2243051
- •
- Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Abnormal pelvic girdle bone morphology- MedGen UID:
- 866545
- •Concept ID:
- C4020847
- •
- Anatomical Abnormality
An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
Delayed pneumatization of the mastoid process- MedGen UID:
- 867257
- •Concept ID:
- C4021617
- •
- Finding
An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.
Abnormality of the vertebral column- MedGen UID:
- 892426
- •Concept ID:
- C4021789
- •
- Anatomical Abnormality
Any abnormality of the vertebral column.
Polyarticular chondrocalcinosis- MedGen UID:
- 870801
- •Concept ID:
- C4025258
- •
- Disease or Syndrome
Hypercalcemia- MedGen UID:
- 5686
- •Concept ID:
- C0020437
- •
- Disease or Syndrome
An abnormally increased calcium concentration in the blood.
Hypophosphatemia- MedGen UID:
- 39327
- •Concept ID:
- C0085682
- •
- Disease or Syndrome
An abnormally decreased phosphate concentration in the blood.
Elevated circulating alkaline phosphatase concentration- MedGen UID:
- 727252
- •Concept ID:
- C1314665
- •
- Finding
Abnormally increased serum levels of alkaline phosphatase activity.
Dental malocclusion- MedGen UID:
- 9869
- •Concept ID:
- C0024636
- •
- Anatomical Abnormality
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Nasal congestion- MedGen UID:
- 6523
- •Concept ID:
- C0027424
- •
- Sign or Symptom
Reduced ability to pass air through the nasal cavity often leading to mouth breathing.
Dental crowding- MedGen UID:
- 11850
- •Concept ID:
- C0040433
- •
- Finding
Changes in alignment of teeth in the dental arch
Epiblepharon- MedGen UID:
- 488856
- •Concept ID:
- C0344503
- •
- Congenital Abnormality
Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.
Gingival overgrowth- MedGen UID:
- 87712
- •Concept ID:
- C0376480
- •
- Finding
Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
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.
Choanal stenosis- MedGen UID:
- 108427
- •Concept ID:
- C0584837
- •
- Finding
Abnormal narrowing of the choana (the posterior nasal aperture).
Long face- MedGen UID:
- 324419
- •Concept ID:
- C1836047
- •
- Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Broad forehead- MedGen UID:
- 338610
- •Concept ID:
- C1849089
- •
- Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Delayed eruption of primary teeth- MedGen UID:
- 341477
- •Concept ID:
- C1849538
- •
- Finding
Delayed tooth eruption affecting the primary dentition.
Delayed eruption of permanent teeth- MedGen UID:
- 340353
- •Concept ID:
- C1849540
- •
- Finding
Delayed tooth eruption affecting the secondary dentition.
Tooth malposition- MedGen UID:
- 377692
- •Concept ID:
- C1852504
- •
- Finding
Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.
Prominent nasal bridge- MedGen UID:
- 343051
- •Concept ID:
- C1854113
- •
- Finding
Anterior positioning of the nasal root in comparison to the usual positioning for age.
Bony paranasal bossing- MedGen UID:
- 341786
- •Concept ID:
- C1857499
- •
- Finding
Alveolar ridge overgrowth- MedGen UID:
- 400802
- •Concept ID:
- C1865598
- •
- Finding
Increased width of the alveolar ridges.
Secondary hyperparathyroidism- MedGen UID:
- 9368
- •Concept ID:
- C0020503
- •
- Disease or Syndrome
Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia.
Increased circulating osteocalcin level- MedGen UID:
- 1621520
- •Concept ID:
- C4531126
- •
- Finding
An elevated level of osteocalcin in the blood.
Exotropia- MedGen UID:
- 4613
- •Concept ID:
- C0015310
- •
- Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.
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).
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Optic atrophy- MedGen UID:
- 18180
- •Concept ID:
- C0029124
- •
- Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Visual fixation instability- MedGen UID:
- 1372887
- •Concept ID:
- C4476760
- •
- Finding
A deficit in the ability to fixate eye movements in order to stabilize images on the retina
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation
- Growth abnormality