From HPO
Brachydactyly- MedGen UID:
- 67454
- •Concept ID:
- C0221357
- •
- Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Short middle phalanx of the 5th finger- MedGen UID:
- 322335
- •Concept ID:
- C1834060
- •
- Anatomical Abnormality
Hypoplastic/small middle phalanx of the fifth finger.
Long second metacarpal- MedGen UID:
- 350045
- •Concept ID:
- C1861531
- •
- Finding
Short middle phalanx of the 2nd finger- MedGen UID:
- 867077
- •Concept ID:
- C4021435
- •
- Anatomical Abnormality
Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.
Coxa vara- MedGen UID:
- 1790477
- •Concept ID:
- C5551440
- •
- Anatomical Abnormality
Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
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).
Moderately short stature- MedGen UID:
- 348380
- •Concept ID:
- C1861519
- •
- Finding
A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
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.
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.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Increased bone mineral density- MedGen UID:
- 10502
- •Concept ID:
- C0029464
- •
- Disease or Syndrome
An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Spondylolisthesis- MedGen UID:
- 52470
- •Concept ID:
- C0038016
- •
- Disease or Syndrome
Spondylolisthesis is defined as forward slipping of a vertebral body on the one below it. Spondylolysis is defined as a defect in the pars interarticularis without vertebral slipping (summary by Wiltse et al., 1975).
Spondylolysis- MedGen UID:
- 21294
- •Concept ID:
- C0038018
- •
- Disease or Syndrome
Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.
Cervical rib- MedGen UID:
- 102359
- •Concept ID:
- C0158779
- •
- Congenital Abnormality
Presence of rib formation in the cervical region.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
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 clavicles- MedGen UID:
- 96529
- •Concept ID:
- C0426799
- •
- Congenital Abnormality
Reduced length of the clavicles.
Short ribs- MedGen UID:
- 98094
- •Concept ID:
- C0426817
- •
- Finding
Reduced rib length.
Large fontanelles- MedGen UID:
- 105329
- •Concept ID:
- C0456132
- •
- Finding
In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.
Increased susceptibility to fractures- MedGen UID:
- 234655
- •Concept ID:
- C1390474
- •
- Finding
An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.
Short femoral neck- MedGen UID:
- 373033
- •Concept ID:
- C1836184
- •
- Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Large foramen magnum- MedGen UID:
- 336194
- •Concept ID:
- C1844508
- •
- Finding
An abnormal increase in the size of the foramen magnum.
Hypoplastic scapulae- MedGen UID:
- 337579
- •Concept ID:
- C1846434
- •
- Finding
Underdeveloped scapula.
Persistent open anterior fontanelle- MedGen UID:
- 376607
- •Concept ID:
- C1849537
- •
- Finding
The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.
Absent frontal sinuses- MedGen UID:
- 343405
- •Concept ID:
- C1855669
- •
- Finding
Aplasia of frontal sinus.
Parietal bossing- MedGen UID:
- 347377
- •Concept ID:
- C1857126
- •
- Finding
Parietal bossing is a marked prominence in the parietal region.
Absent paranasal sinuses- MedGen UID:
- 346522
- •Concept ID:
- C1857131
- •
- Finding
Aplasia of the paranasal sinuses.
Wide pubic symphysis- MedGen UID:
- 387763
- •Concept ID:
- C1857190
- •
- Finding
Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.
Aplastic clavicle- MedGen UID:
- 341820
- •Concept ID:
- C1857665
- •
- Congenital Abnormality
Absence of the clavicles as a developmental defect.
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.
Thickened calvaria- MedGen UID:
- 346823
- •Concept ID:
- C1858452
- •
- Finding
The presence of an abnormally thick calvaria.
Cone-shaped epiphyses of the phalanges of the hand- MedGen UID:
- 347156
- •Concept ID:
- C1859480
- •
- Finding
A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
Hypoplastic frontal sinuses- MedGen UID:
- 349225
- •Concept ID:
- C1859682
- •
- Finding
Underdevelopment of frontal sinus.
Abnormal facility in opposing the shoulders- MedGen UID:
- 348379
- •Concept ID:
- C1861517
- •
- Finding
Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest.
Hypoplastic iliac wing- MedGen UID:
- 351279
- •Concept ID:
- C1865027
- •
- Anatomical Abnormality
Underdevelopment of the ilium ala.
Delayed pubic bone ossification- MedGen UID:
- 357116
- •Concept ID:
- C1866710
- •
- Finding
Delayed maturation and calcification of the pubic bone.
Wormian bones- MedGen UID:
- 766814
- •Concept ID:
- C3553900
- •
- Congenital Abnormality
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Respiratory distress- MedGen UID:
- 96907
- •Concept ID:
- C0476273
- •
- Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Neonatal respiratory distress- MedGen UID:
- 924182
- •Concept ID:
- C4281993
- •
- Finding
Respiratory difficulty as newborn.
Enamel hypoplasia- MedGen UID:
- 3730
- •Concept ID:
- C0011351
- •
- Disease or Syndrome
Developmental hypoplasia of the dental enamel.
Teeth, supernumerary- MedGen UID:
- 21210
- •Concept ID:
- C0040457
- •
- Anatomical Abnormality
The presence of one or more teeth additional to the normal number.
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).
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.
High, narrow palate- MedGen UID:
- 324787
- •Concept ID:
- C1837404
- •
- Finding
The presence of a high and narrow palate.
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.
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.
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).
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
- Ear malformation
- Growth abnormality