From HPO
Ectopic kidney- MedGen UID:
- 68661
- •Concept ID:
- C0238207
- •
- Congenital Abnormality
A developmental defect in which a kidney is located in an abnormal anatomic position.
Renal duplication- MedGen UID:
- 488826
- •Concept ID:
- C0266298
- •
- Congenital Abnormality
A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.
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.
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).
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
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.
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.
Atresia of the external auditory canal- MedGen UID:
- 78613
- •Concept ID:
- C0266597
- •
- Congenital Abnormality
Absence or failure to form 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).
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Macrocytic anemia- MedGen UID:
- 1920
- •Concept ID:
- C0002886
- •
- Disease or Syndrome
A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
Reticulocytopenia- MedGen UID:
- 167812
- •Concept ID:
- C0858867
- •
- Finding
A reduced number of reticulocytes in the peripheral blood.
Steroid-responsive anemia- MedGen UID:
- 1679264
- •Concept ID:
- C5194784
- •
- Disease or Syndrome
Amelioration of anemia upon treatment with a steroid medication.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Congenital diaphragmatic hernia- MedGen UID:
- 68625
- •Concept ID:
- C0235833
- •
- Congenital Abnormality
The presence of a hernia of the diaphragm present at birth.
Morgagni diaphragmatic hernia- MedGen UID:
- 539425
- •Concept ID:
- C0265699
- •
- Congenital Abnormality
An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.
Supernumerary ribs- MedGen UID:
- 83380
- •Concept ID:
- C0345397
- •
- Congenital Abnormality
The presence of more than 12 rib pairs.
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.
Mandibulofacial dysostosis- MedGen UID:
- 505796
- •Concept ID:
- CN004722
- •
- Disease or Syndrome
Treacher Collins syndrome is a disorder of craniofacial development. The features include downslanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996).
Genetic Heterogeneity of Treacher Collins Syndrome
Treacher Collins syndrome-2 (TCS2; 613717) is caused by mutation in the POLR1D gene (613715) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3; 248390) is caused by mutation in the POLR1C gene (610060) on chromosome 6p21. Treacher Collins syndrome-4 (TCS4; 618939) is caused by mutation in the POLR1B gene (602000) on chromosome 2q14.
Respiratory distress- MedGen UID:
- 96907
- •Concept ID:
- C0476273
- •
- Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Choanal atresia- MedGen UID:
- 3395
- •Concept ID:
- C0008297
- •
- Congenital Abnormality
Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
Broad neck- MedGen UID:
- 344099
- •Concept ID:
- C1853638
- •
- Finding
Increased side-to-side width of the neck.
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).
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of the cardiovascular system
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system
- Ear malformation
- Growth abnormality