From HPO
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.
Hip dislocation- MedGen UID:
- 42455
- •Concept ID:
- C0019554
- •
- Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
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).
Narrow mouth- MedGen UID:
- 44435
- •Concept ID:
- C0026034
- •
- Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Intellectual disability, mild- MedGen UID:
- 10044
- •Concept ID:
- C0026106
- •
- Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Nail dystrophy- MedGen UID:
- 66368
- •Concept ID:
- C0221260
- •
- Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Coxa valga- MedGen UID:
- 116080
- •Concept ID:
- C0239137
- •
- Finding
Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
Dislocated radial head- MedGen UID:
- 488814
- •Concept ID:
- C0265563
- •
- Congenital Abnormality
A dislocation of the head of the radius from its socket in the elbow joint.
Accessory carpal bones- MedGen UID:
- 120549
- •Concept ID:
- C0265609
- •
- Congenital Abnormality
The presence of more than the normal number of carpal bones.
Toe syndactyly- MedGen UID:
- 75581
- •Concept ID:
- C0265660
- •
- Congenital Abnormality
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
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).
Downslanted palpebral fissures- MedGen UID:
- 98391
- •Concept ID:
- C0423110
- •
- Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Congenital omphalocele- MedGen UID:
- 162756
- •Concept ID:
- C0795690
- •
- Congenital Abnormality
An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects.
Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).
Nail dysplasia- MedGen UID:
- 331737
- •Concept ID:
- C1834405
- •
- Congenital Abnormality
The presence of developmental dysplasia of the nail.
Bipartite calcaneus- MedGen UID:
- 320639
- •Concept ID:
- C1835574
- •
- Finding
A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.
Synostosis of carpal bones- MedGen UID:
- 322856
- •Concept ID:
- C1836193
- •
- Finding
Thick skull base- MedGen UID:
- 326511
- •Concept ID:
- C1839507
- •
- Finding
Limited knee flexion- MedGen UID:
- 326514
- •Concept ID:
- C1839512
- •
- Finding
Reduced ability to flex (bend) the knee joint.
Short distal phalanx of finger- MedGen UID:
- 326590
- •Concept ID:
- C1839829
- •
- Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Impacted teeth, multiple- MedGen UID:
- 327004
- •Concept ID:
- C1839965
- •
- Finding
The presence of multiple impacted teeth.
Sandal gap- MedGen UID:
- 374376
- •Concept ID:
- C1840069
- •
- Finding
A widely spaced gap between the first toe (the great toe) and the second toe.
Short 4th metacarpal- MedGen UID:
- 327074
- •Concept ID:
- C1840309
- •
- Finding
Short fourth metacarpal bone.
Prominent supraorbital ridges- MedGen UID:
- 333982
- •Concept ID:
- C1842060
- •
- Finding
Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Broad distal phalanx of finger- MedGen UID:
- 342551
- •Concept ID:
- C1850630
- •
- Finding
Abnormally wide (broad) distal phalanx of finger.
Short 3rd metacarpal- MedGen UID:
- 338089
- •Concept ID:
- C1850631
- •
- Finding
Short third metacarpal bone.
Flat face- MedGen UID:
- 342829
- •Concept ID:
- C1853241
- •
- Finding
Absence of concavity or convexity of the face when viewed in profile.
Prominent occiput- MedGen UID:
- 381255
- •Concept ID:
- C1853737
- •
- Finding
Increased convexity of the occiput (posterior part of the skull).
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.
Absent frontal sinuses- MedGen UID:
- 343405
- •Concept ID:
- C1855669
- •
- Finding
Aplasia of frontal sinus.
Capitate-hamate fusion- MedGen UID:
- 346488
- •Concept ID:
- C1857002
- •
- Finding
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.
Femoral bowing- MedGen UID:
- 347888
- •Concept ID:
- C1859461
- •
- Finding
Bowing (abnormal curvature) of the femur.
Short 5th metacarpal- MedGen UID:
- 348858
- •Concept ID:
- C1861388
- •
- Finding
Short fifth metacarpal bone.
Broad distal phalanx of the thumb- MedGen UID:
- 350887
- •Concept ID:
- C1863402
- •
- Finding
Increased width of the distal phalanx of thumb.
Short hallux- MedGen UID:
- 400890
- •Concept ID:
- C1865992
- •
- Finding
Underdevelopment (hypoplasia) of the big toe.
Lateral femoral bowing- MedGen UID:
- 401070
- •Concept ID:
- C1866737
- •
- Finding
A lateral bending or abnormal curvature of the femur.
Limited elbow extension- MedGen UID:
- 401158
- •Concept ID:
- C1867103
- •
- Finding
Limited ability to straighten the arm at the elbow joint.
Broad hallux- MedGen UID:
- 401165
- •Concept ID:
- C1867131
- •
- Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Selective tooth agenesis- MedGen UID:
- 370882
- •Concept ID:
- C1970308
- •
- Congenital Abnormality
Agenesis specifically affecting one of the classes incisor, premolar, or molar.
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.
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).
Delayed closure of the anterior fontanelle- MedGen UID:
- 825928
- •Concept ID:
- C3840083
- •
- Finding
A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
Abnormality of the fifth metatarsal bone- MedGen UID:
- 870291
- •Concept ID:
- C4024733
- •
- Anatomical Abnormality
An anomaly of the fifth metatarsal bone.
Bulbous tips of toes- MedGen UID:
- 871262
- •Concept ID:
- C4025747
- •
- Anatomical Abnormality
An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.