From HPO
Cryptorchidism- MedGen UID:
- 8192
- •Concept ID:
- C0010417
- •
- Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Chordee- MedGen UID:
- 66363
- •Concept ID:
- C0221182
- •
- Congenital Abnormality
Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.
Hypospadias- MedGen UID:
- 163083
- •Concept ID:
- C0848558
- •
- Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
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.
Limb undergrowth- MedGen UID:
- 116086
- •Concept ID:
- C0239399
- •
- Finding
Limb shortening because of underdevelopment of one or more bones of the extremities.
Broad palm- MedGen UID:
- 75535
- •Concept ID:
- C0264142
- •
- Congenital Abnormality
For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.
Broad thumb- MedGen UID:
- 140880
- •Concept ID:
- C0426891
- •
- Finding
Increased thumb width without increased dorso-ventral dimension.
Short thumb- MedGen UID:
- 98469
- •Concept ID:
- C0431890
- •
- Congenital Abnormality
Hypoplasia (congenital reduction in size) of the thumb.
Short phalanx of finger- MedGen UID:
- 163753
- •Concept ID:
- C0877165
- •
- Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short metacarpal- MedGen UID:
- 323064
- •Concept ID:
- C1837084
- •
- Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Broad metacarpals- MedGen UID:
- 330796
- •Concept ID:
- C1842229
- •
- Finding
Abnormally broad metacarpal bones.
Broad metatarsal- MedGen UID:
- 330797
- •Concept ID:
- C1842231
- •
- Finding
Increased side-to-side width of a metatarsal bone.
Short palm- MedGen UID:
- 334684
- •Concept ID:
- C1843108
- •
- Finding
Short palm.
Short foot- MedGen UID:
- 376415
- •Concept ID:
- C1848673
- •
- Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Short metatarsal- MedGen UID:
- 341358
- •Concept ID:
- C1849020
- •
- Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Broad phalanx- MedGen UID:
- 340809
- •Concept ID:
- C1855185
- •
- Finding
Increased side-to-side width of one or more phalanges of the fingers or toes.
Broad foot- MedGen UID:
- 356187
- •Concept ID:
- C1866241
- •
- Finding
A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.
Rhizomelia- MedGen UID:
- 357122
- •Concept ID:
- C1866730
- •
- Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Severe short stature- MedGen UID:
- 3931
- •Concept ID:
- C0013336
- •
- Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
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.
Delayed speech and language development- MedGen UID:
- 105318
- •Concept ID:
- C0454644
- •
- Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Craniosynostosis syndrome- MedGen UID:
- 1163
- •Concept ID:
- C0010278
- •
- Disease or Syndrome
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Inguinal hernia- MedGen UID:
- 6817
- •Concept ID:
- C0019294
- •
- Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
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.
Pseudoarthrosis- MedGen UID:
- 46175
- •Concept ID:
- C0033785
- •
- Finding
A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint").
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Hypoplasia of the maxilla- MedGen UID:
- 66804
- •Concept ID:
- C0240310
- •
- Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Camptodactyly of finger- MedGen UID:
- 98041
- •Concept ID:
- C0409348
- •
- Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
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.
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Hypoplastic scapulae- MedGen UID:
- 337579
- •Concept ID:
- C1846434
- •
- Finding
Underdeveloped scapula.
Bowing of the long bones- MedGen UID:
- 340849
- •Concept ID:
- C1855340
- •
- Congenital Abnormality
A bending or abnormal curvature of a long bone.
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.
Cloverleaf skull- MedGen UID:
- 348010
- •Concept ID:
- C1860050
- •
- Congenital Abnormality
Trilobar skull configuration when viewed from the front or behind.
Shallow orbits- MedGen UID:
- 351328
- •Concept ID:
- C1865244
- •
- Finding
Reduced depth of the orbits associated with prominent-appearing ocular globes.
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.
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.
Choanal atresia- MedGen UID:
- 3395
- •Concept ID:
- C0008297
- •
- Congenital Abnormality
Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
Nasal congestion- MedGen UID:
- 6523
- •Concept ID:
- C0027424
- •
- Sign or Symptom
Reduced ability to pass air through the nasal cavity often leading to mouth breathing.
Eruption failure- MedGen UID:
- 11856
- •Concept ID:
- C0040458
- •
- Finding
A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.
Delayed eruption of teeth- MedGen UID:
- 68678
- •Concept ID:
- C0239174
- •
- Finding
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
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).
Mandibular prognathia- MedGen UID:
- 98316
- •Concept ID:
- C0399526
- •
- Finding
Abnormal prominence of the chin related to increased length of the mandible.
Downslanted palpebral fissures- MedGen UID:
- 98391
- •Concept ID:
- C0423110
- •
- Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Telecanthus- MedGen UID:
- 140836
- •Concept ID:
- C0423113
- •
- Finding
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
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).
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.
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.
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.
Long philtrum- MedGen UID:
- 351278
- •Concept ID:
- C1865014
- •
- Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Hypoplastic toenails- MedGen UID:
- 332409
- •Concept ID:
- C1837279
- •
- Finding
Underdevelopment of the toenail.
Proptosis- MedGen UID:
- 41917
- •Concept ID:
- C0015300
- •
- Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
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 genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Ear malformation
- Growth abnormality