From HPO
Clubfoot- MedGen UID:
- 3130
- •Concept ID:
- C0009081
- •
- Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Micromelia- MedGen UID:
- 10031
- •Concept ID:
- C0025995
- •
- Congenital Abnormality
The presence of abnormally small extremities.
Hypoplasia of the radius- MedGen UID:
- 672334
- •Concept ID:
- C0685381
- •
- Congenital Abnormality
Underdevelopment of the radius.
Severe limb shortening- MedGen UID:
- 331977
- •Concept ID:
- C1835446
- •
- Finding
Abnormal hand bone ossification- MedGen UID:
- 866888
- •Concept ID:
- C4021244
- •
- Finding
An abnormality of the formation and mineralization of any bone of the skeleton of hand.
Abnormal femoral metaphysis morphology- MedGen UID:
- 870591
- •Concept ID:
- C4025040
- •
- Anatomical Abnormality
An anomaly of the femoral metaphysis.
Protuberant abdomen- MedGen UID:
- 340750
- •Concept ID:
- C1854928
- •
- Finding
A thrusting or bulging out of the abdomen.
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.
Barrel-shaped chest- MedGen UID:
- 120497
- •Concept ID:
- C0264172
- •
- Finding
A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.
Multiple rib fractures- MedGen UID:
- 75784
- •Concept ID:
- C0272567
- •
- Injury or Poisoning
More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.
Short thorax- MedGen UID:
- 140876
- •Concept ID:
- C0426789
- •
- Finding
Reduced inferior to superior extent of the thorax.
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.
Broad clavicles- MedGen UID:
- 98091
- •Concept ID:
- C0426801
- •
- Finding
Increased width (cross-sectional diameter) of the clavicles.
Short ribs- MedGen UID:
- 98094
- •Concept ID:
- C0426817
- •
- Finding
Reduced rib length.
Bowing of the arm- MedGen UID:
- 488899
- •Concept ID:
- C0426863
- •
- Finding
A bending or abnormal curvature affecting a long bone of the arm.
Decreased skull ossification- MedGen UID:
- 609330
- •Concept ID:
- C0432073
- •
- Congenital Abnormality
A reduction in the magnitude or amount of ossification of the skull.
Hypoplastic scapulae- MedGen UID:
- 337579
- •Concept ID:
- C1846434
- •
- Finding
Underdeveloped scapula.
Disproportionate short-trunk short stature- MedGen UID:
- 337580
- •Concept ID:
- C1846435
- •
- Finding
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
Flaring of rib cage- MedGen UID:
- 381496
- •Concept ID:
- C1854780
- •
- Finding
The presence of wide, concave anterior rib ends.
Hypoplastic ischia- MedGen UID:
- 347146
- •Concept ID:
- C1859447
- •
- Finding
Underdevelopment of the ischium, which forms the lower and back part of the hip bone.
Unossified vertebral bodies- MedGen UID:
- 349749
- •Concept ID:
- C1860202
- •
- Finding
A lack of ossification of the vertebral bodies.
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.
Hypoplastic sacrum- MedGen UID:
- 370356
- •Concept ID:
- C1970816
- •
- Finding
Abnormal foot bone ossification- MedGen UID:
- 892416
- •Concept ID:
- C4021241
- •
- Anatomical Abnormality
An abnormality of the formation and mineralization of any bone of the skeleton of foot.
Turricephaly- MedGen UID:
- 1726910
- •Concept ID:
- C5399823
- •
- Congenital Abnormality
Tall head relative to width and length.
Bowing of the legs- MedGen UID:
- 1807399
- •Concept ID:
- C5574706
- •
- Finding
A bending or abnormal curvature affecting a long bone of the leg.
Crescent-shaped iliac bone- MedGen UID:
- 1054883
- •Concept ID:
- CN377485
- •
- Finding
Deficient mineralization of the iliac wings, giving a paraglider/crescent shape to the iliac bone.
Abnormal ischium ossification- MedGen UID:
- 1053907
- •Concept ID:
- CN377486
- •
- Finding
An abnormality of the formation and mineralization of ischial bones.
Pulmonary hypoplasia- MedGen UID:
- 78574
- •Concept ID:
- C0265783
- •
- Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Protruding tongue- MedGen UID:
- 66831
- •Concept ID:
- C0241442
- •
- Finding
Tongue extending beyond the alveolar ridges or teeth at rest.
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.
Anteverted nares- MedGen UID:
- 326648
- •Concept ID:
- C1840077
- •
- Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Flat face- MedGen UID:
- 342829
- •Concept ID:
- C1853241
- •
- Finding
Absence of concavity or convexity of the face when viewed in profile.
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.
Hypoplastic nasal bridge- MedGen UID:
- 356319
- •Concept ID:
- C1865597
- •
- Finding
Polyhydramnios- MedGen UID:
- 6936
- •Concept ID:
- C0020224
- •
- Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Hydrops fetalis- MedGen UID:
- 6947
- •Concept ID:
- C0020305
- •
- Disease or Syndrome
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
Absence of stomach bubble on fetal sonography- MedGen UID:
- 869203
- •Concept ID:
- C4023625
- •
- Finding
By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.
Increased nuchal translucency- MedGen UID:
- 869253
- •Concept ID:
- C4023676
- •
- Finding
Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of prenatal development or birth
- Abnormality of the digestive system
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system
- Ear malformation