Phenotypes associated with the disease CHD7-related CHARGE syndrome (OMIM:214800, an entry in Online Mendelian Inheritance in Man):
- Anal stenosis (HP:0002025, a Human Phenotype Ontology term): Abnormal narrowing of the anal opening. Evidence: IEA. (OMIM:214800)
- Hypogonadotropic hypogonadism (HP:0000044, a Human Phenotype Ontology term): Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). Evidence: IEA. (OMIM:214800)
- Dysplastic tricuspid valve (HP:0030732, a Human Phenotype Ontology term): A congenital malformation of the tricuspid valve characterized by leaflet deformation. Evidence: PCS. Frequency: 1/3. (PMID:17937444)
- Anal atresia (HP:0002023, a Human Phenotype Ontology term): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: IEA. (OMIM:214800)
- Square face (HP:0000321, a Human Phenotype Ontology term): Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. Evidence: IEA. (OMIM:214800)
- Renal hypoplasia (HP:0000089, a Human Phenotype Ontology term): Hypoplasia of the kidney. Evidence: IEA. (OMIM:214800)
- Retinal coloboma (HP:0000480, a Human Phenotype Ontology term): A notch or cleft of the retina or choroid, located vertically below the optic disc. Evidence: IEA. (OMIM:214800)
- Horseshoe kidney (HP:0000085, a Human Phenotype Ontology term): A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Evidence: IEA. (OMIM:214800)
- Bifid femur (HP:0010443, a Human Phenotype Ontology term): A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side. Evidence: PCS. Frequency: 1/3. (PMID:17937444)
- Aplasia of the semicircular canal (HP:0011381, a Human Phenotype Ontology term): Absence of the semicircular canal. Evidence: PCS. Frequency: 1/2. (PMID:17937444)
- Cataract (HP:0000518, a Human Phenotype Ontology term): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 1/3. (PMID:17937444)
- Hemivertebrae (HP:0002937, a Human Phenotype Ontology term): Absence of one half of the vertebral body. Evidence: IEA. (OMIM:214800)
- Fetal onset (HP:0011461, a Human Phenotype Ontology term): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: PCS. Frequency: 1/3. (PMID:17937444)
- Gonadotropin deficiency (HP:0008213, a Human Phenotype Ontology term): A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). Evidence: IEA. (OMIM:214800)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: IEA. (OMIM:214800)
- Decreased total lymphocyte count (HP:0001888, a Human Phenotype Ontology term): A reduced number of lymphocytes in the blood. Evidence: TAS. (OMIM:214800)
- Postnatal growth retardation (HP:0008897, a Human Phenotype Ontology term): Slow or limited growth after birth. Evidence: PCS. Frequency: 19/19. (PMID:15300250)
- Arrhinencephaly (HP:0002139, a Human Phenotype Ontology term): A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell. Evidence: PCS. Frequency: 11/144. (PMID:2260555)
- Patent ductus arteriosus (HP:0001643, a Human Phenotype Ontology term): 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. Evidence: PCS. Frequency: 1/3. (PMID:17937444)
- Sporadic (HP:0003745, a Human Phenotype Ontology term): Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. Evidence: IEA. (OMIM:214800)
- Down-sloping shoulders (HP:0200021, a Human Phenotype Ontology term): Low set, steeply sloping shoulders. Evidence: IEA. (OMIM:214800)
- Pulmonic stenosis (HP:0001642, a Human Phenotype Ontology term): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: PCS. Frequency: 1/3. (PMID:17937444)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 47/47. (PMID:2260555)
- Radial head subluxation (HP:0003048, a Human Phenotype Ontology term): Partial dislocation of the head of the radius. Evidence: PCS. Frequency: 1/3. (PMID:17937444)
- Cleft palate (HP:0000175, a Human Phenotype Ontology term): 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). Evidence: PCS. Frequency: 1/3. (PMID:17937444)
- Downslanted palpebral fissures (HP:0000494, a Human Phenotype Ontology term): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: IEA. (OMIM:214800)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. (OMIM:214800)
- Micropenis (HP:0000054, a Human Phenotype Ontology term): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: PCS. Frequency: 2/3. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:17937444)
- Abnormal rib morphology (HP:0000772, a Human Phenotype Ontology term): An anomaly of the rib. Evidence: IEA. (OMIM:214800)
- Choanal atresia (HP:0000453, a Human Phenotype Ontology term): 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. Evidence: PCS. Frequency: 34/69. (PMID:2260555;PMID:15300250;PMID:17937444)
- Hand monodactyly (HP:0004058, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/3. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:17937444)
- Esophageal atresia (HP:0002032, a Human Phenotype Ontology term): A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach. Evidence: IEA. (OMIM:214800)
- Feeding difficulties (HP:0011968, a Human Phenotype Ontology term): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. (OMIM:214800)
- Hypoplastic male external genitalia (HP:0000050, a Human Phenotype Ontology term): Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). Evidence: IEA. (OMIM:214800)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): 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. Evidence: PCS. Frequency: 2/2. (PMID:17937444)
- External genital hypoplasia (HP:0003241, a Human Phenotype Ontology term): Underdevelopment of part or all of the external reproductive organs. Evidence: PCS. Frequency: 11/22. (PMID:15300250;PMID:17937444)
- Aplasia/Hypoplasia of the thymus (HP:0010515, a Human Phenotype Ontology term): Absence or underdevelopment of the thymus. Evidence: TAS. (OMIM:214800)
- Anophthalmia (HP:0000528, a Human Phenotype Ontology term): Absence of the globe or eyeball. Evidence: IEA. (OMIM:214800)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 2/2. (PMID:17937444)
- Right aortic arch (HP:0012020, a Human Phenotype Ontology term): Aorta descends on right instead of on the left. Evidence: PCS. Frequency: 1/3. (PMID:17937444)
- Umbilical hernia (HP:0001537, a Human Phenotype Ontology term): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: IEA. (OMIM:214800)
- Microphthalmia (HP:0000568, a Human Phenotype Ontology term): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: IEA. (OMIM:214800)
- Omphalocele (HP:0001539, a Human Phenotype Ontology term): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: IEA. (OMIM:214800)
- Hypocalcemia (HP:0002901, a Human Phenotype Ontology term): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: TAS. (OMIM:214800)
- Overriding aorta (HP:0002623, a Human Phenotype Ontology term): An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle. Evidence: PCS. Frequency: 1/3. (PMID:17937444)
- Short thumb (HP:0009778, a Human Phenotype Ontology term): Hypoplasia (congenital reduction in size) of the thumb. Evidence: IEA. (OMIM:214800)
- Abnormal palmar dermatoglyphics (HP:0001018, a Human Phenotype Ontology term): An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. Evidence: IEA. (OMIM:214800)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:15300250)
- Cleft upper lip (HP:0000204, a Human Phenotype Ontology term): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: IEA. (OMIM:214800)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): 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. Evidence: PCS. Frequency: 2/3. (PMID:17937444)
- Facial asymmetry (HP:0000324, a Human Phenotype Ontology term): An abnormal difference between the left and right sides of the face. Evidence: PCS. Frequency: 36/56. (PMID:16400610)
- Hydronephrosis (HP:0000126, a Human Phenotype Ontology term): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: IEA. (OMIM:214800)
- Bilateral talipes equinovarus (HP:0001776, a Human Phenotype Ontology term): Bilateral clubfoot deformity. Evidence: PCS. Frequency: 2/3. (PMID:17937444)
- Labial hypoplasia (HP:0000066, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:214800)
- Facial palsy (HP:0010628, a Human Phenotype Ontology term): Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. Evidence: PCS. Frequency: 5/19. (PMID:15300250)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/3. (PMID:17937444)
- Parathyroid hypoplasia (HP:0000860, a Human Phenotype Ontology term): Developmental hypoplasia of the parathyroid gland. Evidence: IEA. (OMIM:214800)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 1/1. (PMID:17937444)
- Unilateral microphthalmos (HP:0011480, a Human Phenotype Ontology term): A developmental anomaly characterized by abnormal smallness of one eye. Evidence: PCS. Frequency: 2/3. (PMID:17937444)
- Ventricular septal defect (HP:0001629, a Human Phenotype Ontology term): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 3/3. (PMID:17937444)
- Microtia (HP:0008551, a Human Phenotype Ontology term): Underdevelopment of the external ear. Evidence: IEA. (OMIM:214800)
- Anosmia (HP:0000458, a Human Phenotype Ontology term): An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. Evidence: IEA. (OMIM:214800)
- Iris coloboma (HP:0000612, a Human Phenotype Ontology term): A coloboma of the iris. Evidence: PCS. Frequency: 79%. (PMID:9556299)
- Pulmonary artery atresia (HP:0004935, a Human Phenotype Ontology term): A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. Evidence: PCS. Frequency: 1/3. (PMID:17937444)
- Cupped ear (HP:0000378, a Human Phenotype Ontology term): Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). Evidence: IEA. (OMIM:214800)
- Mixed hearing impairment (HP:0000410, a Human Phenotype Ontology term): A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. Evidence: IEA. (OMIM:214800)
- Tracheoesophageal fistula (HP:0002575, a Human Phenotype Ontology term): An abnormal connection (fistula) between the esophagus and the trachea. Evidence: PCS. Frequency: 10/55. (PMID:16400610)
- Dysphagia (HP:0002015, a Human Phenotype Ontology term): Difficulty in swallowing. Evidence: IEA. (OMIM:214800)
- Polyhydramnios (HP:0001561, a Human Phenotype Ontology term): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 1/3. Onset: Fetal onset (HP:0011461, a Human Phenotype Ontology term). (PMID:17937444)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:214800)
- Secundum atrial septal defect (HP:0001684, a Human Phenotype Ontology term): A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. Evidence: PCS. Frequency: 1/3. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:17937444)
- Holoprosencephaly (HP:0001360, a Human Phenotype Ontology term): Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. Evidence: PCS. Frequency: 2/144. (PMID:2260555)
- Hypoplasia of the ulna (HP:0003022, a Human Phenotype Ontology term): Underdevelopment of the ulna. Evidence: PCS. Frequency: 1/3. (PMID:17937444)
- Hand polydactyly (HP:0001161, a Human Phenotype Ontology term): A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. Evidence: IEA. (OMIM:214800)
- Lop ear (HP:0000394, a Human Phenotype Ontology term): Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha. Evidence: IEA. (OMIM:214800)
- Malar flattening (HP:0000272, a Human Phenotype Ontology term): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: TAS. (OMIM:214800)
- Hypoparathyroidism (HP:0000829, a Human Phenotype Ontology term): A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. Evidence: PCS. Frequency: 1/3. (PMID:17937444)
- Double outlet right ventricle (HP:0001719, a Human Phenotype Ontology term): Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. Evidence: PCS. Frequency: 1/3. (PMID:17937444)
- Ptosis (HP:0000508, a Human Phenotype Ontology term): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: IEA. (OMIM:214800)
- Tetralogy of Fallot (HP:0001636, a Human Phenotype Ontology term): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: IEA. (OMIM:214800)
- Hypothyroidism (HP:0000821, a Human Phenotype Ontology term): Deficiency of thyroid hormone. Evidence: TAS. (OMIM:214800)
- Decreased response to growth hormone stimulation test (HP:0000824, a Human Phenotype Ontology term): Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. Evidence: IEA. (OMIM:214800)
- Delayed puberty (HP:0000823, a Human Phenotype Ontology term): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: IEA. (OMIM:214800)
- Absent tibia (HP:0009556, a Human Phenotype Ontology term): Absence of the tibia. Evidence: PCS. Frequency: 2/3. (PMID:17937444)
- Atrial septal defect (HP:0001631, a Human Phenotype Ontology term): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: IEA. (OMIM:214800)
- Webbed neck (HP:0000465, a Human Phenotype Ontology term): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: IEA. (OMIM:214800)
- Absent radius (HP:0003974, a Human Phenotype Ontology term): Missing radius bone associated with congenital failure of development. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:214800)
- Coloboma (HP:0000589, a Human Phenotype Ontology term): A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. Evidence: PCS. Frequency: 53/69. (PMID:2260555;PMID:15300250;PMID:17937444)
- Cryptorchidism (HP:0000028, a Human Phenotype Ontology term): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 1/3. (PMID:17937444)
- Duodenal atresia (HP:0002247, a Human Phenotype Ontology term): A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. Evidence: IEA. (OMIM:214800)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:214800)
- Renal agenesis (HP:0000104, a Human Phenotype Ontology term): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: IEA. (OMIM:214800)
- Self-mutilation (HP:0000742, a Human Phenotype Ontology term): Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die. Evidence: PCS. Frequency: 1/3. (PMID:17937444)