From HPO
Hydronephrosis- MedGen UID:
- 42531
- •Concept ID:
- C0020295
- •
- Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Postaxial polydactyly- MedGen UID:
- 67394
- •Concept ID:
- C0220697
- •
- Congenital Abnormality
Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012).
Genetic Heterogeneity of Postaxial Polydactyly
Other forms of postaxial polydactyly type A include PAPA2 (602085) on chromosome 13q21; PAPA3 (607324) on chromosome 19p13; PAPA4 (608562) on chromosome 7q22; PAPA5 (263450) on chromosome 13q13; PAPA6 (615226), caused by mutation in the ZNF141 gene (194648) on chromosome 4p16; PAPA7 (617642), caused by mutation in the IQCE gene (617631) on chromosome 7p22; PAPA8 (618123), caused by mutation in the GLI1 gene (165220) on chromosome 12q13; PAPA9 (618219), caused by mutation in the CIBAR1 gene (617273) on chromosome 8q22; and PAPA10 (618498), caused by mutation in the KIAA0825 gene (617266) on chromosome 5q15.
Bilateral talipes equinovarus- MedGen UID:
- 332956
- •Concept ID:
- C1837835
- •
- Congenital Abnormality
Bilateral clubfoot deformity.
Rhizomelia- MedGen UID:
- 357122
- •Concept ID:
- C1866730
- •
- Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Hemiatrophy- MedGen UID:
- 451036
- •Concept ID:
- C0333662
- •
- Pathologic Function
Undergrowth of the limbs that affects only one side.
Postnatal growth retardation- MedGen UID:
- 395343
- •Concept ID:
- C1859778
- •
- Finding
Slow or limited growth after birth.
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.
Abnormal pinna morphology- MedGen UID:
- 167800
- •Concept ID:
- C0857379
- •
- Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Intellectual disability, moderate- MedGen UID:
- 7680
- •Concept ID:
- C0026351
- •
- Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
Ventriculomegaly- MedGen UID:
- 480553
- •Concept ID:
- C3278923
- •
- Finding
An increase in size of the ventricular system of the brain.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Tracheal calcification- MedGen UID:
- 75539
- •Concept ID:
- C0264324
- •
- Disease or Syndrome
Calcification (abnormal deposits of calcium) in the tracheal tissues.
Hemivertebrae- MedGen UID:
- 82720
- •Concept ID:
- C0265677
- •
- Congenital Abnormality
Absence of one half of the vertebral body.
Kyphoscoliosis- MedGen UID:
- 154361
- •Concept ID:
- C0575158
- •
- Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Patellar dislocation- MedGen UID:
- 253896
- •Concept ID:
- C1135812
- •
- Injury or Poisoning
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
Stippled calcification in carpal bones- MedGen UID:
- 337100
- •Concept ID:
- C1844846
- •
- Finding
Point-shaped (punctate) calcifications affecting the carpal bones.
Tarsal stippling- MedGen UID:
- 337101
- •Concept ID:
- C1844848
- •
- Finding
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.
Calcific stippling- MedGen UID:
- 340441
- •Concept ID:
- C1849993
- •
- Finding
An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs).
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.
Epiphyseal stippling- MedGen UID:
- 349104
- •Concept ID:
- C1859126
- •
- Finding
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.
Dandy-Walker malformation- MedGen UID:
- 419183
- •Concept ID:
- C2931867
- •
- Congenital Abnormality
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Abnormal pelvic girdle bone morphology- MedGen UID:
- 866545
- •Concept ID:
- C4020847
- •
- Anatomical Abnormality
An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
Abnormal thorax morphology- MedGen UID:
- 867424
- •Concept ID:
- C4021797
- •
- Anatomical Abnormality
Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
Punctate vertebral calcifications- MedGen UID:
- 870240
- •Concept ID:
- C4024678
- •
- Anatomical Abnormality
The presence of punctiform calcification of the bone of the vertebral bodies.
Tracheal stenosis- MedGen UID:
- 21227
- •Concept ID:
- C0040583
- •
- Disease or Syndrome
Narrowing of the lumen of the trachea.
Erythroderma- MedGen UID:
- 3767
- •Concept ID:
- C0011606
- •
- Disease or Syndrome
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Edema- MedGen UID:
- 4451
- •Concept ID:
- C0013604
- •
- Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Elevated 8-dehydrocholesterol- MedGen UID:
- 333461
- •Concept ID:
- C1840013
- •
- Finding
Elevated 8(9)-cholestenol- MedGen UID:
- 327010
- •Concept ID:
- C1840014
- •
- Finding
Concave nasal ridge- MedGen UID:
- 78105
- •Concept ID:
- C0264169
- •
- Finding
Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.
Downslanted palpebral fissures- MedGen UID:
- 98391
- •Concept ID:
- C0423110
- •
- Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
Sparse eyebrow- MedGen UID:
- 371332
- •Concept ID:
- C1832446
- •
- Finding
Decreased density/number of eyebrow hairs.
Flat face- MedGen UID:
- 342829
- •Concept ID:
- C1853241
- •
- Finding
Absence of concavity or convexity of the face when viewed in profile.
Congenital nonbullous ichthyosiform erythroderma- MedGen UID:
- 38180
- •Concept ID:
- C0079154
- •
- Disease or Syndrome
The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.
Congenital ichthyosiform erythroderma- MedGen UID:
- 86936
- •Concept ID:
- C0079583
- •
- Disease or Syndrome
An ichthyosiform abnormality of the skin with congenital onset.
Sparse eyelashes- MedGen UID:
- 375151
- •Concept ID:
- C1843300
- •
- Finding
Decreased density/number of eyelashes.
Patchy alopecia- MedGen UID:
- 350774
- •Concept ID:
- C1862862
- •
- Finding
Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.
Sparse hair- MedGen UID:
- 1790211
- •Concept ID:
- C5551005
- •
- Finding
Reduced density of hairs.
Polyhydramnios- MedGen UID:
- 6936
- •Concept ID:
- C0020224
- •
- Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Glaucoma- MedGen UID:
- 42224
- •Concept ID:
- C0017601
- •
- Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Microphthalmia- MedGen UID:
- 10033
- •Concept ID:
- C0026010
- •
- Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of prenatal development or birth
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Ear malformation
- Growth abnormality