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.
Hydroureter- MedGen UID:
- 101073
- •Concept ID:
- C0521620
- •
- Anatomical Abnormality
The distention of the ureter with urine.
Arachnodactyly- MedGen UID:
- 2047
- •Concept ID:
- C0003706
- •
- Congenital Abnormality
Abnormally long and slender fingers ("spider fingers").
Coxa valga- MedGen UID:
- 116080
- •Concept ID:
- C0239137
- •
- Finding
Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
Scapular winging- MedGen UID:
- 66822
- •Concept ID:
- C0240953
- •
- Anatomical Abnormality
Abnormal protrusion of the scapula away from the surface of the back.
Dislocated radial head- MedGen UID:
- 488814
- •Concept ID:
- C0265563
- •
- Congenital Abnormality
A dislocation of the head of the radius from its socket in the elbow joint.
Knee flexion contracture- MedGen UID:
- 98042
- •Concept ID:
- C0409355
- •
- Finding
A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.
Genu valgum- MedGen UID:
- 154364
- •Concept ID:
- C0576093
- •
- Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Long foot- MedGen UID:
- 154365
- •Concept ID:
- C0576225
- •
- Finding
Increased back to front length of the foot.
Ankle flexion contracture- MedGen UID:
- 332440
- •Concept ID:
- C1837407
- •
- Anatomical Abnormality
Limited elbow movement- MedGen UID:
- 337930
- •Concept ID:
- C1849955
- •
- Finding
Broad phalanges of the hand- MedGen UID:
- 867033
- •Concept ID:
- C4021391
- •
- Anatomical Abnormality
Increased width of the phalanges of the hand.
Long phalanx of finger- MedGen UID:
- 870635
- •Concept ID:
- C4025087
- •
- Anatomical Abnormality
Increased length of multiple or a single phalanx of finger.
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.
Cor pulmonale- MedGen UID:
- 18765
- •Concept ID:
- C0034072
- •
- Disease or Syndrome
Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.
Sensorineural hearing loss disorder- MedGen UID:
- 9164
- •Concept ID:
- C0018784
- •
- Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
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.
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.
Klippel-Feil syndrome- MedGen UID:
- 9645
- •Concept ID:
- C0022738
- •
- Disease or Syndrome
Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004).
Genetic Heterogeneity of Klippel-Feil Syndrome
Additional forms of KFS include autosomal recessive KFS2 (214300), caused by mutation in the MEOX1 gene (600147) on chromosome 17q21, autosomal dominant KFS3 (613702), caused by mutation in the GDF3 gene (606522) on chromosome 12p13, and autosomal recessive KFS4 (616549), caused by mutation in the MYO18B gene (607295) on chromosome 22q12.
See also MURCS association (601076), in which Klippel-Feil anomaly is associated with urogenital anomalies.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Hypoplasia of the musculature- MedGen UID:
- 66010
- •Concept ID:
- C0240414
- •
- Finding
Underdevelopment of the musculature.
Elbow flexion contracture- MedGen UID:
- 98367
- •Concept ID:
- C0409338
- •
- Acquired Abnormality
An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.
Wrist flexion contracture- MedGen UID:
- 592338
- •Concept ID:
- C0409345
- •
- Acquired Abnormality
A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
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.
Carpal synostosis- MedGen UID:
- 98468
- •Concept ID:
- C0431863
- •
- Congenital Abnormality
Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).
Muscular atrophy- MedGen UID:
- 892680
- •Concept ID:
- C0541794
- •
- Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Large foramen magnum- MedGen UID:
- 336194
- •Concept ID:
- C1844508
- •
- Finding
An abnormal increase in the size of the foramen magnum.
Antegonial notching of mandible- MedGen UID:
- 334972
- •Concept ID:
- C1844509
- •
- Finding
Anteriorly placed odontoid process- MedGen UID:
- 375441
- •Concept ID:
- C1844512
- •
- Finding
Anterior mislocalization of the dens of the axis.
Increased density of long bone diaphyses- MedGen UID:
- 375442
- •Concept ID:
- C1844516
- •
- Finding
Partial fusion of carpals- MedGen UID:
- 375444
- •Concept ID:
- C1844519
- •
- Finding
Partial fusion of tarsals- MedGen UID:
- 336197
- •Concept ID:
- C1844520
- •
- Finding
Bowing of the long bones- MedGen UID:
- 340849
- •Concept ID:
- C1855340
- •
- Congenital Abnormality
A bending or abnormal curvature of a long bone.
Absent frontal sinuses- MedGen UID:
- 343405
- •Concept ID:
- C1855669
- •
- Finding
Aplasia of frontal sinus.
Fused cervical vertebrae- MedGen UID:
- 854386
- •Concept ID:
- C3887527
- •
- Congenital Abnormality
A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.
Interphalangeal joint contracture of finger- MedGen UID:
- 867413
- •Concept ID:
- C4021784
- •
- Anatomical Abnormality
Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.
Coat hanger sign of ribs- MedGen UID:
- 870562
- •Concept ID:
- C4025010
- •
- Anatomical Abnormality
An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger).
Stridor- MedGen UID:
- 11613
- •Concept ID:
- C0038450
- •
- Sign or Symptom
Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.
Dental malocclusion- MedGen UID:
- 9869
- •Concept ID:
- C0024636
- •
- Anatomical Abnormality
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
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).
Persistence of primary teeth- MedGen UID:
- 75597
- •Concept ID:
- C0266050
- •
- Disease or Syndrome
Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.
Downslanted palpebral fissures- MedGen UID:
- 98391
- •Concept ID:
- C0423110
- •
- Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
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.
Pointed chin- MedGen UID:
- 336193
- •Concept ID:
- C1844505
- •
- Finding
A marked tapering of the lower face to the chin.
Coarse facial features- MedGen UID:
- 335284
- •Concept ID:
- C1845847
- •
- Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Selective tooth agenesis- MedGen UID:
- 370882
- •Concept ID:
- C1970308
- •
- Congenital Abnormality
Agenesis specifically affecting one of the classes incisor, premolar, or molar.
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).
Short chin- MedGen UID:
- 784514
- •Concept ID:
- C3697248
- •
- Finding
Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
Hirsutism- MedGen UID:
- 42461
- •Concept ID:
- C0019572
- •
- Disease or Syndrome
Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
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 cardiovascular 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