From HPO
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.
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.
Hypertensive disorder- MedGen UID:
- 6969
- •Concept ID:
- C0020538
- •
- Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
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.
Microtia- MedGen UID:
- 57535
- •Concept ID:
- C0152423
- •
- Congenital Abnormality
Underdevelopment of the external ear.
Abnormal hair morphology- MedGen UID:
- 56381
- •Concept ID:
- C0157733
- •
- Finding
An abnormality of the hair.
Palpebral edema- MedGen UID:
- 57877
- •Concept ID:
- C0162285
- •
- Pathologic Function
Edema in the region of the eyelids.
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.
Iris coloboma- MedGen UID:
- 116097
- •Concept ID:
- C0240063
- •
- Anatomical Abnormality
A coloboma of the iris.
Breast aplasia- MedGen UID:
- 539633
- •Concept ID:
- C0266009
- •
- Congenital Abnormality
Failure to develop and congenital absence of the breast.
Renal hypoplasia- MedGen UID:
- 120571
- •Concept ID:
- C0266295
- •
- Congenital Abnormality
Hypoplasia of the kidney.
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.
Mandibular prognathia- MedGen UID:
- 98316
- •Concept ID:
- C0399526
- •
- Finding
Abnormal prominence of the chin related to increased length of the mandible.
Fine hair- MedGen UID:
- 98401
- •Concept ID:
- C0423867
- •
- Finding
Hair that is fine or thin to the touch.
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).
Renal agenesis- MedGen UID:
- 154237
- •Concept ID:
- C0542519
- •
- Congenital Abnormality
Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
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).
Abnormality of the nail- MedGen UID:
- 163115
- •Concept ID:
- C0853087
- •
- Anatomical Abnormality
Abnormality of the nail.
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.
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.
Nail dysplasia- MedGen UID:
- 331737
- •Concept ID:
- C1834405
- •
- Congenital Abnormality
The presence of developmental dysplasia of the nail.
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).
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).
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.
Aplasia/Hypoplasia of the nipples- MedGen UID:
- 461436
- •Concept ID:
- C3150086
- •
- 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.
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).
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.
Abnormality of the endocrine system- MedGen UID:
- 893021
- •Concept ID:
- C4025823
- •
- Anatomical Abnormality
An abnormality of the endocrine system.
2-3 toe syndactyly- MedGen UID:
- 1645640
- •Concept ID:
- C4551570
- •
- Congenital Abnormality
Syndactyly with fusion of toes two and three.
Sparse hair- MedGen UID:
- 1790211
- •Concept ID:
- C5551005
- •
- Finding
Reduced density of hairs.