From HPO
Multiple lipomas- MedGen UID:
- 677074
- •Concept ID:
- C0745730
- •
- Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Cardiac myxoma- MedGen UID:
- 743314
- •Concept ID:
- C1960546
- •
- Neoplastic Process
A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.
Unilateral renal agenesis- MedGen UID:
- 75607
- •Concept ID:
- C0266294
- •
- Congenital Abnormality
A unilateral form of agenesis of the kidney.
Renal hypoplasia- MedGen UID:
- 120571
- •Concept ID:
- C0266295
- •
- Congenital Abnormality
Hypoplasia of the kidney.
Renal insufficiency- MedGen UID:
- 332529
- •Concept ID:
- C1565489
- •
- Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Finger syndactyly- MedGen UID:
- 65139
- •Concept ID:
- C0221352
- •
- Congenital Abnormality
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".
Broad thumb- MedGen UID:
- 140880
- •Concept ID:
- C0426891
- •
- Finding
Increased thumb width without increased dorso-ventral dimension.
Clinodactyly of the 5th finger- MedGen UID:
- 340456
- •Concept ID:
- C1850049
- •
- Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
3-4 finger cutaneous syndactyly- MedGen UID:
- 868712
- •Concept ID:
- C4023115
- •
- Congenital Abnormality
A soft tissue continuity in the A/P axis between fingers 3 and 4.
2-3 toe syndactyly- MedGen UID:
- 1645640
- •Concept ID:
- C4551570
- •
- Congenital Abnormality
Syndactyly with fusion of toes two and three.
Congestive heart failure- MedGen UID:
- 9169
- •Concept ID:
- C0018802
- •
- Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Hypertensive disorder- MedGen UID:
- 6969
- •Concept ID:
- C0020538
- •
- Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Supraventricular tachycardia- MedGen UID:
- 52635
- •Concept ID:
- C0039240
- •
- Disease or Syndrome
Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Microtia- MedGen UID:
- 57535
- •Concept ID:
- C0152423
- •
- Congenital Abnormality
Underdevelopment of the external ear.
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.
Posteriorly rotated ears- MedGen UID:
- 96566
- •Concept ID:
- C0431478
- •
- Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Overfolded helix- MedGen UID:
- 325239
- •Concept ID:
- C1837731
- •
- Finding
A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
Small earlobe- MedGen UID:
- 334587
- •Concept ID:
- C1842680
- •
- Finding
Reduced volume of the earlobe.
Cupped ear- MedGen UID:
- 335186
- •Concept ID:
- C1845447
- •
- Congenital Abnormality
Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
Protruding ear- MedGen UID:
- 343309
- •Concept ID:
- C1855285
- •
- Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Anteverted ears- MedGen UID:
- 384047
- •Concept ID:
- C1857055
- •
- Finding
Underdeveloped tragus- MedGen UID:
- 861866
- •Concept ID:
- C4013429
- •
- Anatomical Abnormality
Decreased posterolateral protrusion of the tragus.
Underdeveloped antitragus- MedGen UID:
- 866832
- •Concept ID:
- C4021186
- •
- Anatomical Abnormality
Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.
Lateral ventricle dilatation- MedGen UID:
- 383904
- •Concept ID:
- C1856409
- •
- Pathologic Function
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Calvarial skull defect- MedGen UID:
- 871299
- •Concept ID:
- C4025787
- •
- Anatomical Abnormality
A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.
Pyelonephritis- MedGen UID:
- 19590
- •Concept ID:
- C0034186
- •
- Disease or Syndrome
An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.
Blepharophimosis- MedGen UID:
- 2670
- •Concept ID:
- C0005744
- •
- Congenital Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Palpebral edema- MedGen UID:
- 57877
- •Concept ID:
- C0162285
- •
- Pathologic Function
Edema in the region of the eyelids.
Mandibular prognathia- MedGen UID:
- 98316
- •Concept ID:
- C0399526
- •
- Finding
Abnormal prominence of the chin related to increased length of the mandible.
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.
Epicanthus- MedGen UID:
- 151862
- •Concept ID:
- C0678230
- •
- Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Agenesis of permanent teeth- MedGen UID:
- 224851
- •Concept ID:
- C1290511
- •
- Congenital Abnormality
A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.
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.
Lower eyelid coloboma- MedGen UID:
- 373417
- •Concept ID:
- C1837826
- •
- Disease or Syndrome
A short discontinuity of the margin of the lower eyelid.
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).
Short columella- MedGen UID:
- 341783
- •Concept ID:
- C1857479
- •
- Finding
Reduced distance from the anterior border of the naris to the subnasale.
Narrow palpebral fissure- MedGen UID:
- 382506
- •Concept ID:
- C2675021
- •
- Finding
Reduction in the vertical distance between the upper and lower eyelids.
Bifid uvula- MedGen UID:
- 1646931
- •Concept ID:
- C4551488
- •
- Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
Hypohidrosis- MedGen UID:
- 43796
- •Concept ID:
- C0020620
- •
- Disease or Syndrome
Abnormally diminished capacity to sweat.
Dry skin- MedGen UID:
- 56250
- •Concept ID:
- C0151908
- •
- Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Thickened skin- MedGen UID:
- 66024
- •Concept ID:
- C0241165
- •
- Finding
Laminar thickening of skin.
Aplasia cutis congenita- MedGen UID:
- 79390
- •Concept ID:
- C0282160
- •
- Congenital Abnormality
Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin. The skin appears as a thin, transparent membrane through which the underlying structures are visible. The location is usually on the scalp (Evers et al., 1995). Approximately 20 to 30% of cases have underlying osseous involvement (Elliott and Teebi, 1997). Autosomal dominant inheritance is most common, but recessive inheritance has also been reported.
Cutaneous aplasia of the scalp vertex also occurs in Johanson-Blizzard syndrome (243800) and Adams-Oliver syndrome (AOS; 100300). A defect in the scalp is sometimes found in cases of trisomy 13 and in about 15% of cases of deletion of the short arm of chromosome 4, the Wolf-Hirschhorn syndrome (WHS; 194190) (Hirschhorn et al., 1965; Fryns et al., 1973).
Evers et al. (1995) provided a list of disorders associated with aplasia cutis congenita, classified according to etiology. They also tabulated points of particular significance in history taking and examination of patients with ACC.
Cutaneous photosensitivity- MedGen UID:
- 87601
- •Concept ID:
- C0349506
- •
- Pathologic Function
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
Fine hair- MedGen UID:
- 98401
- •Concept ID:
- C0423867
- •
- Finding
Hair that is fine or thin to the touch.
Nail dysplasia- MedGen UID:
- 331737
- •Concept ID:
- C1834405
- •
- Congenital Abnormality
The presence of developmental dysplasia of the nail.
Sparse pubic hair- MedGen UID:
- 388095
- •Concept ID:
- C1858573
- •
- Finding
Reduced number or density of pubic hair.
Sparse axillary hair- MedGen UID:
- 348975
- •Concept ID:
- C1858574
- •
- Finding
Reduced number or density of axillary hair.
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.
Breast aplasia- MedGen UID:
- 539633
- •Concept ID:
- C0266009
- •
- Congenital Abnormality
Failure to develop and congenital absence of the breast.
Aplasia/Hypoplasia of the nipples- MedGen UID:
- 461436
- •Concept ID:
- C3150086
- •
- Finding
Anisocoria- MedGen UID:
- 1944
- •Concept ID:
- C0003079
- •
- Finding
Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.
Developmental cataract- MedGen UID:
- 3202
- •Concept ID:
- C0009691
- •
- Congenital Abnormality
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
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.
Iris coloboma- MedGen UID:
- 116097
- •Concept ID:
- C0240063
- •
- Anatomical Abnormality
A coloboma of the iris.
Hypotelorism- MedGen UID:
- 96107
- •Concept ID:
- C0424711
- •
- Finding
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the breast
- Abnormality of the cardiovascular system
- 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
- Ear malformation
- Growth abnormality
- Neoplasm