From HPO
Shawl scrotum- MedGen UID:
- 388088
- •Concept ID:
- C1858539
- •
- Congenital Abnormality
Superior margin of the scrotum superior to the base of the penis.
Micropenis- MedGen UID:
- 1633603
- •Concept ID:
- C4551492
- •
- Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
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).
Ulnar deviation of the hand- MedGen UID:
- 66031
- •Concept ID:
- C0241521
- •
- Finding
Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).
Short lower limbs- MedGen UID:
- 98100
- •Concept ID:
- C0426901
- •
- Finding
Shortening of the legs related to developmental hypoplasia of the bones of the leg.
Hypoplastic acetabulae- MedGen UID:
- 375890
- •Concept ID:
- C1846442
- •
- Finding
Underdeveloped acetabulae.
Short 1st metacarpal- MedGen UID:
- 376561
- •Concept ID:
- C1849311
- •
- Finding
A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.
Short tibia- MedGen UID:
- 338005
- •Concept ID:
- C1850259
- •
- Finding
Underdevelopment (reduced size) of the tibia.
Bowed humerus- MedGen UID:
- 395269
- •Concept ID:
- C1859460
- •
- Finding
A bending or abnormal curvature of the humerus.
Ulnar bowing- MedGen UID:
- 356099
- •Concept ID:
- C1865847
- •
- Finding
Bending of the diaphysis (shaft) of the ulna.
Atrial septal defect- MedGen UID:
- 6753
- •Concept ID:
- C0018817
- •
- Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Fetal growth restriction- MedGen UID:
- 4693
- •Concept ID:
- C0015934
- •
- Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Osteopenia- MedGen UID:
- 18222
- •Concept ID:
- C0029453
- •
- Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Short ribs- MedGen UID:
- 98094
- •Concept ID:
- C0426817
- •
- Finding
Reduced rib length.
Thin ribs- MedGen UID:
- 98095
- •Concept ID:
- C0426818
- •
- Finding
Ribs with a reduced diameter.
Short sternum- MedGen UID:
- 108394
- •Concept ID:
- C0575497
- •
- Finding
Decreased inferosuperior length of the sternum.
Decreased calvarial ossification- MedGen UID:
- 322270
- •Concept ID:
- C1833762
- •
- Finding
Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).
Coronal cleft vertebrae- MedGen UID:
- 320483
- •Concept ID:
- C1834954
- •
- Finding
Frontal schisis (cleft or cleavage) of vertebral bodies.
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Relative macrocephaly- MedGen UID:
- 338607
- •Concept ID:
- C1849075
- •
- Congenital Abnormality
A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.
Femoral bowing- MedGen UID:
- 347888
- •Concept ID:
- C1859461
- •
- Finding
Bowing (abnormal curvature) of the femur.
Hypoplastic iliac wing- MedGen UID:
- 351279
- •Concept ID:
- C1865027
- •
- Anatomical Abnormality
Underdevelopment of the ilium ala.
Butterfly vertebrae- MedGen UID:
- 1744309
- •Concept ID:
- C5438458
- •
- Congenital Abnormality
A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.
Arthrogryposis multiplex congenita- MedGen UID:
- 1830310
- •Concept ID:
- C5779613
- •
- Disease or Syndrome
Multiple congenital contractures in different body areas.
Cystic hygroma- MedGen UID:
- 60195
- •Concept ID:
- C0206620
- •
- Neoplastic Process
A cystic lymphatic lesion of the neck.
Webbed neck- MedGen UID:
- 113154
- •Concept ID:
- C0221217
- •
- Congenital Abnormality
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
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.
Thickened nuchal skin fold- MedGen UID:
- 324644
- •Concept ID:
- C1836940
- •
- Finding
A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.
Wide intermamillary distance- MedGen UID:
- 473489
- •Concept ID:
- C1827524
- •
- Finding
A larger than usual distance between the left and right nipple.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of prenatal development or birth
- Abnormality of the breast
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Growth abnormality