From HPO
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.
Lethal short-limbed short stature- MedGen UID:
- 388831
- •Concept ID:
- C2674171
- •
- Finding
Protuberant abdomen- MedGen UID:
- 340750
- •Concept ID:
- C1854928
- •
- Finding
A thrusting or bulging out of the abdomen.
Hydrocephalus- MedGen UID:
- 9335
- •Concept ID:
- C0020255
- •
- Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Gray matter heterotopia- MedGen UID:
- 452349
- •Concept ID:
- C0266491
- •
- Finding
Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
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.
Intellectual disability, profound- MedGen UID:
- 892508
- •Concept ID:
- C3161330
- •
- Mental or Behavioral Dysfunction
Profound mental retardation is defined as an intelligence quotient (IQ) below 20.
Temporal lobe dysplasia- MedGen UID:
- 1814372
- •Concept ID:
- C5676808
- •
- Congenital Abnormality
A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations.
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.
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 ribs- MedGen UID:
- 98094
- •Concept ID:
- C0426817
- •
- Finding
Reduced rib length.
Thoracic hypoplasia- MedGen UID:
- 373339
- •Concept ID:
- C1837482
- •
- Congenital Abnormality
Metaphyseal irregularity- MedGen UID:
- 325478
- •Concept ID:
- C1838662
- •
- Finding
Irregularity of the normally smooth surface of the metaphyses.
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
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.
Severe platyspondyly- MedGen UID:
- 338014
- •Concept ID:
- C1850293
- •
- Finding
Short long bone- MedGen UID:
- 344385
- •Concept ID:
- C1854912
- •
- Finding
One or more abnormally short long bone.
Bowing of the long bones- MedGen UID:
- 340849
- •Concept ID:
- C1855340
- •
- Congenital Abnormality
A bending or abnormal curvature of a long bone.
Femoral bowing- MedGen UID:
- 347888
- •Concept ID:
- C1859461
- •
- Finding
Bowing (abnormal curvature) of the femur.
Cloverleaf skull- MedGen UID:
- 348010
- •Concept ID:
- C1860050
- •
- Congenital Abnormality
Trilobar skull configuration when viewed from the front or behind.
Wide-cupped costochondral junctions- MedGen UID:
- 349985
- •Concept ID:
- C1861213
- •
- Finding
Small foramen magnum- MedGen UID:
- 348813
- •Concept ID:
- C1861217
- •
- Finding
An abnormal narrowing of the foramen magnum.
Hypoplastic ilia- MedGen UID:
- 348814
- •Concept ID:
- C1861218
- •
- Finding
Underdevelopment of the ilium.
Small abnormally formed scapulae- MedGen UID:
- 396084
- •Concept ID:
- C1861226
- •
- Finding
Short greater sciatic notch- MedGen UID:
- 401058
- •Concept ID:
- C1866689
- •
- Finding
The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.
Macrocephaly- MedGen UID:
- 745757
- •Concept ID:
- C2243051
- •
- Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Hypoplastic pelvis- MedGen UID:
- 760700
- •Concept ID:
- C3536734
- •
- Anatomical Abnormality
Underdevelopment of the bony pelvis.
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.
Neonatal respiratory distress- MedGen UID:
- 924182
- •Concept ID:
- C4281993
- •
- Finding
Respiratory difficulty as newborn.
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
Prominent forehead- MedGen UID:
- 373291
- •Concept ID:
- C1837260
- •
- Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
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.
Small face- MedGen UID:
- 343376
- •Concept ID:
- C1855538
- •
- Finding
A face that is short and narrow.
Breech presentation- MedGen UID:
- 654
- •Concept ID:
- C0006157
- •
- Pathologic Function
A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.
Polyhydramnios- MedGen UID:
- 6936
- •Concept ID:
- C0020224
- •
- Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Decreased fetal movement- MedGen UID:
- 68618
- •Concept ID:
- C0235659
- •
- Finding
An abnormal reduction in quantity or strength of fetal movements.
5-minute APGAR score of 1- MedGen UID:
- 1369112
- •Concept ID:
- C4476851
- •
- Finding
1-minute APGAR score of 1- MedGen UID:
- 1375563
- •Concept ID:
- C4476858
- •
- Finding
Champagne cork sign- MedGen UID:
- 1814376
- •Concept ID:
- C5676812
- •
- Sign or Symptom
Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding.
- Abnormality of head or neck
- Abnormality of prenatal development or birth
- Abnormality of the digestive system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Growth abnormality