From HPO
Unilateral renal agenesis- MedGen UID:
- 75607
- •Concept ID:
- C0266294
- •
- Congenital Abnormality
A unilateral form of agenesis of the kidney.
Bicornuate uterus- MedGen UID:
- 78599
- •Concept ID:
- C0266387
- •
- Congenital Abnormality
The presence of a bicornuate uterus.
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).
Hallux valgus- MedGen UID:
- 5416
- •Concept ID:
- C0018536
- •
- Anatomical Abnormality
Lateral deviation of the great toe (i.e., in the direction of the little toe).
Triphalangeal thumb- MedGen UID:
- 66029
- •Concept ID:
- C0241397
- •
- Congenital Abnormality
A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.
Toe syndactyly- MedGen UID:
- 75581
- •Concept ID:
- C0265660
- •
- Congenital Abnormality
Webbing or fusion of the toes, 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 toes in a proximo-distal axis are referred to as "Symphalangism".
Short thumb- MedGen UID:
- 98469
- •Concept ID:
- C0431890
- •
- Congenital Abnormality
Hypoplasia (congenital reduction in size) of the thumb.
Thumb deformity- MedGen UID:
- 107901
- •Concept ID:
- C0575897
- •
- Finding
An abnormal structure of the first digit of the hand.
Hypoplasia of the radius- MedGen UID:
- 672334
- •Concept ID:
- C0685381
- •
- Congenital Abnormality
Underdevelopment of the radius.
Overlapping toe- MedGen UID:
- 182531
- •Concept ID:
- C0920299
- •
- Anatomical Abnormality
Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.
Absent radius- MedGen UID:
- 235613
- •Concept ID:
- C1405984
- •
- Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Symphalangism of the thumb- MedGen UID:
- 322329
- •Concept ID:
- C1834032
- •
- Congenital Abnormality
Congenital fusion (ankylosis) of the interphalangeal joint of the thumb.
Radial deviation of finger- MedGen UID:
- 322852
- •Concept ID:
- C1836189
- •
- Finding
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Short toe- MedGen UID:
- 322858
- •Concept ID:
- C1836195
- •
- Finding
A toe that appears disproportionately short compared to the foot.
4-5 toe syndactyly- MedGen UID:
- 324891
- •Concept ID:
- C1837836
- •
- Finding
Syndactyly with fusion of toes four and five.
Short 5th finger- MedGen UID:
- 334269
- •Concept ID:
- C1842878
- •
- Congenital Abnormality
Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.
Bilateral radial aplasia- MedGen UID:
- 336433
- •Concept ID:
- C1848840
- •
- Finding
Missing radius bone on both sides associated with congenital failure of development.
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 hallux- MedGen UID:
- 400890
- •Concept ID:
- C1865992
- •
- Finding
Underdevelopment (hypoplasia) of the big toe.
Limited elbow extension- MedGen UID:
- 401158
- •Concept ID:
- C1867103
- •
- Finding
Limited ability to straighten the arm at the elbow joint.
Broad hallux- MedGen UID:
- 401165
- •Concept ID:
- C1867131
- •
- Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Aplasia/Hypoplasia of the thumb- MedGen UID:
- 465975
- •Concept ID:
- C3179508
- •
- Finding
Hypoplastic/small or absent thumb.
Absent thumb- MedGen UID:
- 480441
- •Concept ID:
- C3278811
- •
- Finding
Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.
Foot oligodactyly- MedGen UID:
- 923973
- •Concept ID:
- C4281601
- •
- Anatomical Abnormality
A developmental defect resulting in the presence of fewer than the normal number of toes.
Clinodactyly- MedGen UID:
- 1644094
- •Concept ID:
- C4551485
- •
- Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Patent ductus arteriosus- MedGen UID:
- 4415
- •Concept ID:
- C0013274
- •
- Congenital Abnormality
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Ventricular septal defect- MedGen UID:
- 42366
- •Concept ID:
- C0018818
- •
- Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Mitral valve prolapse- MedGen UID:
- 7671
- •Concept ID:
- C0026267
- •
- Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Tetralogy of Fallot- MedGen UID:
- 21498
- •Concept ID:
- C0039685
- •
- Congenital Abnormality
People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.
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).
Aganglionic megacolon- MedGen UID:
- 5559
- •Concept ID:
- C0019569
- •
- Disease or Syndrome
The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid (Amiel et al., 2008). Total colonic aganglionosis and total intestinal HSCR also occur.
Genetic Heterogeneity of Hirschsprung Disease
Several additional loci for isolated Hirschsprung disease have been mapped. HSCR2 (600155) is associated with variation in the EDNRB gene (131244) on 13q22; HSCR3 (613711) is associated with variation in the GDNF gene (600837) on 5p13; HSCR4 (613712) is associated with variation in the EDN3 gene (131242) on 20q13; HSCR5 (600156) maps to 9q31; HSCR6 (606874) maps to 3p21; HSCR7 (606875) maps to 19q12; HSCR8 (608462) maps to 16q23; and HSCR9 (611644) maps to 4q31-q32.
HSCR also occurs as a feature of several syndromes including the Waardenburg-Shah syndrome (277580), Mowat-Wilson syndrome (235730), Goldberg-Shprintzen syndrome (609460), and congenital central hypoventilation syndrome (CCHS; 209880).
Whereas mendelian modes of inheritance have been described for syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance. The development of surgical procedures decreased mortality and morbidity, which allowed the emergence of familial cases. HSCR occurs as an isolated trait in 70% of patients, is associated with chromosomal anomaly in 12% of cases, and occurs with additional congenital anomalies in 18% of cases (summary by Amiel et al., 2008).
Gastroschisis- MedGen UID:
- 82721
- •Concept ID:
- C0265706
- •
- Disease or Syndrome
Gastroschisis is a congenital defect of the abdominal wall that occurs laterally to, and often to the right of, a normally closed umbilical ring. Visceral organs that herniate through the defect are not covered by a membrane. Gastroschisis is distinct from omphalocele (164750), which is characterized by herniation of abdominal contents through the base of the umbilical cord; in omphalocele, the visceral organs are covered by membranes (summary by Mastroiacovo et al., 2007).
Both omphalocele and gastroschisis, when they occur without other malformations, are probably multifactorial (Baird and MacDonald, 1981).
Conductive hearing impairment- MedGen UID:
- 9163
- •Concept ID:
- C0018777
- •
- Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
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.
Atresia of the external auditory canal- MedGen UID:
- 78613
- •Concept ID:
- C0266597
- •
- Congenital Abnormality
Absence or failure to form of the external auditory canal.
Stenosis of the external auditory canal- MedGen UID:
- 140758
- •Concept ID:
- C0395837
- •
- Finding
An abnormal narrowing of the external auditory canal.
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).
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.
Cupped ear- MedGen UID:
- 335186
- •Concept ID:
- C1845447
- •
- Congenital Abnormality
Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
Hydrocephalus- MedGen UID:
- 9335
- •Concept ID:
- C0020255
- •
- Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Polymicrogyria- MedGen UID:
- 78605
- •Concept ID:
- C0266464
- •
- Congenital Abnormality
Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
Aqueductal stenosis- MedGen UID:
- 75614
- •Concept ID:
- C0266476
- •
- Congenital Abnormality
Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.
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.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Hip dislocation- MedGen UID:
- 42455
- •Concept ID:
- C0019554
- •
- Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Retrognathia- MedGen UID:
- 19766
- •Concept ID:
- C0035353
- •
- Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Trismus- MedGen UID:
- 21671
- •Concept ID:
- C0041105
- •
- Disease or Syndrome
Limitation in the ability to open the mouth.
Radioulnar synostosis- MedGen UID:
- 57861
- •Concept ID:
- C0158761
- •
- Congenital Abnormality
An abnormal osseous union (fusion) between the radius and the ulna.
Cervical rib- MedGen UID:
- 102359
- •Concept ID:
- C0158779
- •
- Congenital Abnormality
Presence of rib formation in the cervical region.
Congenital diaphragmatic hernia- MedGen UID:
- 68625
- •Concept ID:
- C0235833
- •
- Congenital Abnormality
The presence of a hernia of the diaphragm present at birth.
Camptodactyly- MedGen UID:
- 195780
- •Concept ID:
- C0685409
- •
- Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Hypoplasia of first ribs- MedGen UID:
- 331732
- •Concept ID:
- C1834386
- •
- Congenital Abnormality
Abnormality of the cervical spine- MedGen UID:
- 338935
- •Concept ID:
- C1852464
- •
- Anatomical Abnormality
Any abnormality of the cervical vertebral column.
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.
Temporomandibular joint ankylosis- MedGen UID:
- 444041
- •Concept ID:
- C2931375
- •
- Disease or Syndrome
Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Subglottic stenosis- MedGen UID:
- 68668
- •Concept ID:
- C0238441
- •
- Anatomical Abnormality
Laryngeal hypoplasia- MedGen UID:
- 96567
- •Concept ID:
- C0431527
- •
- Congenital Abnormality
Underdevelopment of the larynx.
Hypoplasia of the epiglottis- MedGen UID:
- 235600
- •Concept ID:
- C1396772
- •
- Congenital Abnormality
Hypoplasia of the epiglottis.
Cleft upper lip- MedGen UID:
- 40327
- •Concept ID:
- C0008924
- •
- Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Wide mouth- MedGen UID:
- 44238
- •Concept ID:
- C0024433
- •
- Congenital Abnormality
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Velopharyngeal insufficiency- MedGen UID:
- 52992
- •Concept ID:
- C0042454
- •
- Finding
Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
Lacrimal duct stenosis- MedGen UID:
- 116054
- •Concept ID:
- C0238300
- •
- Finding
Narrowing of a tear duct (lacrimal duct).
Downslanted palpebral fissures- MedGen UID:
- 98391
- •Concept ID:
- C0423110
- •
- Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Cleft soft palate- MedGen UID:
- 98471
- •Concept ID:
- C0432098
- •
- Congenital Abnormality
Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.
Facial asymmetry- MedGen UID:
- 266298
- •Concept ID:
- C1306710
- •
- Finding
An abnormal difference between the left and right sides of the face.
Lower eyelid coloboma- MedGen UID:
- 373417
- •Concept ID:
- C1837826
- •
- Disease or Syndrome
A short discontinuity of the margin of the lower eyelid.
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.
Prominent nasal bridge- MedGen UID:
- 343051
- •Concept ID:
- C1854113
- •
- Finding
Anterior positioning of the nasal root in comparison to the usual positioning for age.
Cleft palate- MedGen UID:
- 756015
- •Concept ID:
- C2981150
- •
- Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Preauricular hair displacement- MedGen UID:
- 869865
- •Concept ID:
- C4024296
- •
- Finding
An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.
Urticaria- MedGen UID:
- 22587
- •Concept ID:
- C0042109
- •
- Disease or Syndrome
Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.
Sparse lower eyelashes- MedGen UID:
- 322584
- •Concept ID:
- C1835148
- •
- Finding
Preauricular skin tag- MedGen UID:
- 395989
- •Concept ID:
- C1860816
- •
- Finding
A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
Absent lower eyelashes- MedGen UID:
- 870379
- •Concept ID:
- C4024824
- •
- Finding
Lack of eyelashes on the lower lid.
Premature birth- MedGen UID:
- 57721
- •Concept ID:
- C0151526
- •
- Pathologic Function
The birth of a baby of less than 37 weeks of gestational age.
Strabismus- MedGen UID:
- 21337
- •Concept ID:
- C0038379
- •
- Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of prenatal development or birth
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- 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