From HPO
Micromelia- MedGen UID:
- 10031
- •Concept ID:
- C0025995
- •
- Congenital Abnormality
The presence of abnormally small extremities.
Broad palm- MedGen UID:
- 75535
- •Concept ID:
- C0264142
- •
- Congenital Abnormality
For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.
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.
Hip subluxation- MedGen UID:
- 140946
- •Concept ID:
- C0434785
- •
- Injury or Poisoning
A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.
Short phalanx of finger- MedGen UID:
- 163753
- •Concept ID:
- C0877165
- •
- Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short metacarpal- MedGen UID:
- 323064
- •Concept ID:
- C1837084
- •
- Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Broad metacarpals- MedGen UID:
- 330796
- •Concept ID:
- C1842229
- •
- Finding
Abnormally broad metacarpal bones.
Short palm- MedGen UID:
- 334684
- •Concept ID:
- C1843108
- •
- Finding
Short palm.
Short finger- MedGen UID:
- 334977
- •Concept ID:
- C1844548
- •
- Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Long fibula- MedGen UID:
- 338386
- •Concept ID:
- C1848109
- •
- Finding
Disproportionately long fibulae.
Broad phalanx- MedGen UID:
- 340809
- •Concept ID:
- C1855185
- •
- Finding
Increased side-to-side width of one or more phalanges of the fingers or toes.
Triangular shaped distal phalanges of the hand- MedGen UID:
- 869747
- •Concept ID:
- C4024176
- •
- Anatomical Abnormality
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.
Disproportionate short-limb short stature- MedGen UID:
- 342370
- •Concept ID:
- C1849937
- •
- Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Spinal cord compression- MedGen UID:
- 11549
- •Concept ID:
- C0037926
- •
- Disease or Syndrome
External mechanical compression of the spinal cord.
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.
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.
Calcification of falx cerebri- MedGen UID:
- 237237
- •Concept ID:
- C1397139
- •
- Disease or Syndrome
The presence of calcium deposition in the falx cerebri.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Pectus carinatum- MedGen UID:
- 57643
- •Concept ID:
- C0158731
- •
- Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Tracheal calcification- MedGen UID:
- 75539
- •Concept ID:
- C0264324
- •
- Disease or Syndrome
Calcification (abnormal deposits of calcium) in the tracheal tissues.
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.
Atlantoaxial instability- MedGen UID:
- 98381
- •Concept ID:
- C0410653
- •
- Disease or Syndrome
Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.
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.
Short ribs- MedGen UID:
- 98094
- •Concept ID:
- C0426817
- •
- Finding
Reduced rib length.
Spondyloepimetaphyseal dysplasia- MedGen UID:
- 609408
- •Concept ID:
- C0432211
- •
- Disease or Syndrome
An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.
Thoracic hypoplasia- MedGen UID:
- 373339
- •Concept ID:
- C1837482
- •
- Congenital Abnormality
Posterior rib cupping- MedGen UID:
- 325182
- •Concept ID:
- C1837483
- •
- Finding
Wide, concave posterior rib end.
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Anterior rib cupping- MedGen UID:
- 337520
- •Concept ID:
- C1846154
- •
- Finding
Wide, concave anterior rib end.
Odontoid hypoplasia- MedGen UID:
- 339524
- •Concept ID:
- C1846439
- •
- Finding
The odontoid process, or dens, is a bony projection from the axis (C2) upward into the ring of the atlas (C1) at the top of the spine. During embryogenesis, the body of the odontoid derives from the centrum of the atlas and separates from the atlas, fusing with the superior portion of the axis. If the odontoid is hypoplastic or absent, the attachments for the apical and alar ligaments are missing, allowing for excessive rotation of the atlas, craniocervical instability, and possibly cord compression (summary by Stevens et al., 2009).
C1-C2 subluxation- MedGen UID:
- 376359
- •Concept ID:
- C1848446
- •
- Finding
A partial dislocation of the atlantoaxial joints.
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.
Short long bone- MedGen UID:
- 344385
- •Concept ID:
- C1854912
- •
- Finding
One or more abnormally short long bone.
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.
Epiphyseal stippling- MedGen UID:
- 349104
- •Concept ID:
- C1859126
- •
- Finding
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.
Bell-shaped thorax- MedGen UID:
- 351320
- •Concept ID:
- C1865186
- •
- Finding
The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.
Flared iliac wing- MedGen UID:
- 356097
- •Concept ID:
- C1865841
- •
- Finding
Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.
Wide anterior fontanel- MedGen UID:
- 400926
- •Concept ID:
- C1866134
- •
- Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.
Progressive calcification of costochondral cartilage- MedGen UID:
- 368474
- •Concept ID:
- C1968577
- •
- Finding
Abnormal calcification of the carpal bones- MedGen UID:
- 368481
- •Concept ID:
- C1968592
- •
- Finding
Pectus excavatum- MedGen UID:
- 781174
- •Concept ID:
- C2051831
- •
- Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Broad long bones- MedGen UID:
- 867270
- •Concept ID:
- C4021630
- •
- Finding
Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.
Calcification of cartilage- MedGen UID:
- 867626
- •Concept ID:
- C4022015
- •
- Finding
The presence of calcium deposition in cartilage.
Bowing of the legs- MedGen UID:
- 1807399
- •Concept ID:
- C5574706
- •
- Finding
A bending or abnormal curvature affecting a long bone of the leg.
Recurrent pneumonia- MedGen UID:
- 195802
- •Concept ID:
- C0694550
- •
- Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Restrictive ventilatory defect- MedGen UID:
- 478856
- •Concept ID:
- C3277226
- •
- Finding
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
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).
Concave nasal ridge- MedGen UID:
- 78105
- •Concept ID:
- C0264169
- •
- Finding
Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.
Enlarged naris- MedGen UID:
- 98425
- •Concept ID:
- C0426440
- •
- Finding
Increased aperture of the nostril.
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
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.
Depressed nasal ridge- MedGen UID:
- 334631
- •Concept ID:
- C1842876
- •
- Finding
Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.
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.
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.
Broad face- MedGen UID:
- 349223
- •Concept ID:
- C1859680
- •
- Finding
Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).
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.
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).
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Growth abnormality