From HPO
Hallux valgus- MedGen UID:
- 5416
- •Concept ID:
- C0018536
- •
- Anatomical Abnormality
Lateral deviation of the great toe (i.e., in the direction of the little toe).
Short phalanx of finger- MedGen UID:
- 163753
- •Concept ID:
- C0877165
- •
- Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Broad hallux- MedGen UID:
- 401165
- •Concept ID:
- C1867131
- •
- Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
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).
2-3 toe syndactyly- MedGen UID:
- 1645640
- •Concept ID:
- C4551570
- •
- Congenital Abnormality
Syndactyly with fusion of toes two and three.
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).
Conductive hearing impairment- MedGen UID:
- 9163
- •Concept ID:
- C0018777
- •
- Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Absent malleus- MedGen UID:
- 488922
- •Concept ID:
- C0576900
- •
- Finding
Aplasia of the malleus.
Stapes ankylosis- MedGen UID:
- 350008
- •Concept ID:
- C1861326
- •
- Anatomical Abnormality
Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), 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).
Chiari malformation- MedGen UID:
- 2065
- •Concept ID:
- C0003803
- •
- Congenital Abnormality
Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.
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.
Syringomyelia- MedGen UID:
- 21449
- •Concept ID:
- C0039144
- •
- Disease or Syndrome
Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.
Crouzon syndrome- MedGen UID:
- 1162
- •Concept ID:
- C0010273
- •
- Disease or Syndrome
Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000).
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
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.
Dolichocephaly- MedGen UID:
- 65142
- •Concept ID:
- C0221358
- •
- Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Hypoplasia of the maxilla- MedGen UID:
- 66804
- •Concept ID:
- C0240310
- •
- Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Isolated scaphocephaly- MedGen UID:
- 82712
- •Concept ID:
- C0265534
- •
- Congenital Abnormality
Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.
Trigonocephaly- MedGen UID:
- 82713
- •Concept ID:
- C0265535
- •
- Congenital Abnormality
Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.
Sagittal craniosynostosis- MedGen UID:
- 140921
- •Concept ID:
- C0432123
- •
- Congenital Abnormality
A kind of craniosynostosis affecting the sagittal suture.
Craniosynostosis 4- MedGen UID:
- 322167
- •Concept ID:
- C1833340
- •
- Disease or Syndrome
Craniosynostosis (CRS) is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-4 (CRS4) includes lambdoid, sagittal, metopic, coronal, and multisuture forms.
For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).
Flat occiput- MedGen UID:
- 332439
- •Concept ID:
- C1837402
- •
- Finding
Reduced convexity of the occiput (posterior part of skull).
Coronal craniosynostosis- MedGen UID:
- 344694
- •Concept ID:
- C1856266
- •
- Congenital Abnormality
Premature closure of the coronal suture of skull.
Prominent metopic ridge- MedGen UID:
- 387953
- •Concept ID:
- C1857949
- •
- Finding
Vertical bony ridge positioned in the midline of the forehead.
Metopic synostosis- MedGen UID:
- 395990
- •Concept ID:
- C1860819
- •
- Congenital Abnormality
Premature fusion of the metopic suture.
Oxycephaly- MedGen UID:
- 1634950
- •Concept ID:
- C4551646
- •
- Congenital Abnormality
Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.
Turricephaly- MedGen UID:
- 1726910
- •Concept ID:
- C5399823
- •
- Congenital Abnormality
Tall head relative to width and length.
Chronic otitis media- MedGen UID:
- 75751
- •Concept ID:
- C0271441
- •
- Disease or Syndrome
Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
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.
Dental crowding- MedGen UID:
- 11850
- •Concept ID:
- C0040433
- •
- Finding
Changes in alignment of teeth in the dental arch
Teeth, supernumerary- MedGen UID:
- 21210
- •Concept ID:
- C0040457
- •
- Anatomical Abnormality
The presence of one or more teeth additional to the normal number.
Delayed eruption of teeth- MedGen UID:
- 68678
- •Concept ID:
- C0239174
- •
- Finding
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
High forehead- MedGen UID:
- 65991
- •Concept ID:
- C0239676
- •
- Finding
An abnormally increased height of the forehead.
Convex nasal ridge- MedGen UID:
- 66809
- •Concept ID:
- C0240538
- •
- Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
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.
Downslanted palpebral fissures- MedGen UID:
- 98391
- •Concept ID:
- C0423110
- •
- Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Wide nose- MedGen UID:
- 140869
- •Concept ID:
- C0426421
- •
- Finding
Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
Narrow palate- MedGen UID:
- 278045
- •Concept ID:
- C1398312
- •
- Finding
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
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.
Midface retrusion- MedGen UID:
- 339938
- •Concept ID:
- C1853242
- •
- Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Flat forehead- MedGen UID:
- 347463
- •Concept ID:
- C1857485
- •
- Finding
A forehead with abnormal flatness.
Sloping forehead- MedGen UID:
- 346640
- •Concept ID:
- C1857679
- •
- Finding
Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.
Fingernail dysplasia- MedGen UID:
- 866606
- •Concept ID:
- C4020952
- •
- Disease or Syndrome
An abnormality of the development of the fingernails.
Proptosis- MedGen UID:
- 41917
- •Concept ID:
- C0015300
- •
- Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
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).
Papilledema- MedGen UID:
- 10565
- •Concept ID:
- C0030353
- •
- Finding
Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation
- Growth abnormality