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CHARGE association(CHARGE)

MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
Synonyms: CHARGE; CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES; CHARGE syndrome; Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies; Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation; Hall-Hittner syndrome; Hittner Hirsch Kreh syndrome
Modes of inheritance:
Sporadic
MedGen UID:
64410
Concept ID:
C0205422
Temporal Concept
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome (47535005); Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (CHARGE) association (47535005); Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (47535005); CHARGE association (47535005)
 
Genes (locations): CHD7 (8q12.2); SEMA3E (7q21.11)
OMIM®: 214800
Orphanet: ORPHA138

Disease characteristics

Excerpted from the GeneReview: CHARGE Syndrome
CHARGE is a mnemonic for coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies. CHARGE syndrome is characterized by the following: Unilateral or bilateral coloboma of the iris, retina-choroid, and/or disc with or without microphthalmos (80%-90% of individuals). Unilateral or bilateral choanal atresia or stenosis (50%-60%). Cranial nerve dysfunction resulting in hyposmia or anosmia, unilateral or bilateral facial palsy (40%), impaired hearing, and/or swallowing problems (70%-90%). Abnormal outer ears, ossicular malformations, Mondini defect of the cochlea and absent or hypoplastic semicircular canals (>90%). Cryptorchidism in males and hypogonadotrophic hypogonadism in both males and females. Developmental delay. Cardiovascular malformations (75%-85%). Growth deficiency (70%-80%). Orofacial clefts (15%-20%). Tracheoesophageal fistula (15%-20%) . Neonates with CHARGE syndrome often have multiple life-threatening medical conditions. Feeding difficulties are a major cause of morbidity in all age groups. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Seema R Lalani  |  Margaret A Hefner  |  John W Belmont, et. al.   view full author information

Additional descriptions

From OMIM
CHARGE syndrome is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina (summary by Kallen et al., 1999).  http://www.omim.org/entry/214800
From GHR
CHARGE syndrome is a disorder that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae (also known as choanal atresia), retarded growth and development, genital abnormality, and ear abnormality. The pattern of malformations varies among individuals with this disorder, and infants often have multiple life-threatening medical conditions. The diagnosis of CHARGE syndrome is based on a combination of major and minor characteristics. The major characteristics of CHARGE syndrome are more specific to this disorder than are the minor characteristics. Many individuals with CHARGE syndrome have a hole in one of the structures of the eye (coloboma), which forms during early development. A coloboma may be present in one or both eyes and can affect a person's vision, depending on its size and location. Some people also have small eyes (microphthalmia). One or both nasal passages may be narrowed (choanal stenosis) or completely blocked (choanal atresia). Individuals with CHARGE syndrome frequently have cranial nerve abnormalities. The cranial nerves emerge directly from the brain and extend to various areas of the head and neck, controlling muscle movement and transmitting sensory information. Abnormal function of certain cranial nerves can cause swallowing problems, facial paralysis, a sense of smell that is diminished (hyposmia) or completely absent (anosmia), and mild to profound hearing loss. People with CHARGE syndrome also typically have middle and inner ear abnormalities and unusually shaped ears. The minor characteristics of CHARGE syndrome are not specific to this disorder; they are frequently present in people without CHARGE syndrome. The minor characteristics include heart defects, slow growth starting in late infancy, developmental delay, and an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Individuals frequently have hypogonadotropic hypogonadism, which affects the production of hormones that direct sexual development. Males are often born with an unusually small penis (micropenis) and undescended testes (cryptorchidism). External genitalia abnormalities are seen less often in females with CHARGE syndrome. Puberty can be incomplete or delayed. Individuals may have a tracheoesophageal fistula, which is an abnormal connection (fistula) between the esophagus and the trachea. People with CHARGE syndrome also have distinctive facial features, including a square-shaped face and difference in the appearance between the right and left sides of the face (facial asymmetry). Individuals have a wide range of cognitive function, from normal intelligence to major learning disabilities with absent speech and poor communication.  http://ghr.nlm.nih.gov/condition/charge-syndrome

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Delayed puberty
MedGen UID:
373889
Concept ID:
C1838105
Finding
Intrauterine growth retardation
MedGen UID:
342890
Concept ID:
C1853481
Finding
Postnatal growth retardation
MedGen UID:
355888
Concept ID:
C1865007
Finding
Renal hypoplasia
MedGen UID:
57623
Concept ID:
C0156247
Finding
Renal agenesis
MedGen UID:
98089
Concept ID:
C0426706
Finding
Vesicoureteral reflux
MedGen UID:
332010
Concept ID:
C1835578
Finding
Labial hypoplasia
MedGen UID:
375447
Concept ID:
C1844528
Congenital Abnormality
Abnormality of female internal genitalia
MedGen UID:
424974
Concept ID:
CN000009
Finding
An abnormality of the female internal genitalia.
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
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 testis.
Hypogonadotrophic hypogonadism
MedGen UID:
504316
Concept ID:
CN000044
Finding
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).
Bifid scrotum
MedGen UID:
504318
Concept ID:
CN000048
Finding
Midline indentation or cleft of the scrotum.
Micropenis
MedGen UID:
504321
Concept ID:
CN000054
Finding
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.
Abnormality of female external genitalia
MedGen UID:
446335
Concept ID:
CN000055
Finding
An abnormality of the female external genitalia.
Horseshoe kidney
MedGen UID:
504333
Concept ID:
CN000085
Finding
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Hydronephrosis
MedGen UID:
504353
Concept ID:
CN000122
Finding
Severe distention of the kidney with dilation of the renal pelvis and calices.
Hypoplasia of penis
MedGen UID:
506256
Concept ID:
CN007685
Finding
Abnormal localization of kidney
MedGen UID:
451874
Concept ID:
CN117435
Finding
An abnormal site of the kidney.
Epicanthus
MedGen UID:
724513
Concept ID:
C1303004
Finding
Square face
MedGen UID:
371253
Concept ID:
C1832127
Finding
Narrow face
MedGen UID:
373334
Concept ID:
C1837463
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Broad columella
MedGen UID:
376932
Concept ID:
C1851059
Finding
Anophthalmia
MedGen UID:
340863
Concept ID:
C1855428
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Downslanted palpebral fissures
MedGen UID:
400661
Concept ID:
C1865016
Finding
Delayed eruption of teeth
MedGen UID:
400949
Concept ID:
C1866235
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Narrow mouth
MedGen UID:
504373
Concept ID:
CN000156
Finding
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Cleft palate
MedGen UID:
504379
Concept ID:
CN000170
Finding
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).
Oral cleft
MedGen UID:
504390
Concept ID:
CN000196
Finding
The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
Cleft upper lip
MedGen UID:
504391
Concept ID:
CN000197
Finding
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Sinusitis
MedGen UID:
504406
Concept ID:
CN000238
Finding
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Facial asymmetry
MedGen UID:
504421
Concept ID:
CN000304
Finding
An abnormal difference between the left and right sides of the face.
Choanal atresia
MedGen UID:
504447
Concept ID:
CN000423
Finding
Absence or abnormal closure of the choana (the posterior nasal aperture).
Anosmia
MedGen UID:
504449
Concept ID:
CN000428
Finding
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.
Webbed neck
MedGen UID:
504452
Concept ID:
CN000434
Finding
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.
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Cleft eyelid
MedGen UID:
446370
Concept ID:
CN000587
Finding
A short discontinuity of the margin of the lower or upper eyelid.
Abnormality of dental enamel
MedGen UID:
427814
Concept ID:
CN000641
Finding
An abnormality of the dental enamel.
Dental malocclusion
MedGen UID:
504556
Concept ID:
CN000647
Finding
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.
Dandy-Walker malformation
MedGen UID:
504796
Concept ID:
CN001196
Finding
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Highly arched eyebrow
MedGen UID:
500931
Concept ID:
CN002318
Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Abnormality of the sense of smell
MedGen UID:
428082
Concept ID:
CN003905
Finding
An anomaly in the ability to perceive and distinguish scents (odors).
Posterior choanal atresia
MedGen UID:
505654
Concept ID:
CN003989
Finding
Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture).
Abnormality of the palpebral fissures
MedGen UID:
429185
Concept ID:
CN007077
Finding
An anomaly of the space between the medial and lateral canthi of the two open eyelids.
Reduced number of teeth
MedGen UID:
429449
Concept ID:
CN008661
Finding
The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.
Facial palsy
MedGen UID:
506391
Concept ID:
CN009454
Finding
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.
Cheekbone underdevelopment
MedGen UID:
430039
Concept ID:
CN009495
Finding
Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic process of the temporal bone of the skull, which forms the middle and lateral inferior orbital margin.
Chin dimple
MedGen UID:
506399
Concept ID:
CN009577
Finding
A persistent midline depression of the skin over the fat pad of the chin.
Abnormality of the soft palate
MedGen UID:
451986
Concept ID:
CN117627
Finding
An abnormality of the soft palate.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.
Visual impairment
MedGen UID:
22663
Concept ID:
C0042798
Finding
Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).
Anophthalmia
MedGen UID:
340863
Concept ID:
C1855428
Finding
Glaucoma
MedGen UID:
409541
Concept ID:
C1962986
Finding
Nystagmus
MedGen UID:
409575
Concept ID:
C1963184
Finding
Retinal detachment
MedGen UID:
368440
Concept ID:
C1963229
Finding
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Retinal coloboma
MedGen UID:
504457
Concept ID:
CN000448
Finding
A notch or cleft of the retina.
Retinopathy
MedGen UID:
427824
Concept ID:
CN000456
Finding
Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
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).
Chorioretinal coloboma
MedGen UID:
504500
Concept ID:
CN000532
Finding
Absence of a region of the retina, retinal pigment epithelium, and choroid.
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Optic nerve coloboma
MedGen UID:
504511
Concept ID:
CN000551
Finding
A cleft of the optic nerve that extends inferiorly.
Iris coloboma
MedGen UID:
504523
Concept ID:
CN000574
Finding
A coloboma of the iris.
Cleft eyelid
MedGen UID:
446370
Concept ID:
CN000587
Finding
A short discontinuity of the margin of the lower or upper eyelid.
Lacrimation abnormality
MedGen UID:
425004
Concept ID:
CN000594
Finding
Abnormality of tear production.
Optic atrophy
MedGen UID:
504537
Concept ID:
CN000609
Finding
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Aplasia/Hypoplasia of the earlobes
MedGen UID:
342091
Concept ID:
C1851792
Finding
Low-set, posteriorly rotated ears
MedGen UID:
387834
Concept ID:
C1857486
Finding
Macrotia
MedGen UID:
349900
Concept ID:
C1860838
Finding
Microtia
MedGen UID:
351220
Concept ID:
C1864797
Finding
Abnormality of the inner ear
MedGen UID:
446351
Concept ID:
CN000335
Finding
An abnormality of the inner ear.
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A decreased magnitude of the sensory perception of sound.
Cupped ear
MedGen UID:
504426
Concept ID:
CN000353
Finding
Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
Preauricular skin tag
MedGen UID:
504427
Concept ID:
CN000359
Finding
A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear).
Otitis media
MedGen UID:
504428
Concept ID:
CN000363
Finding
Inflammation or infection of the middle ear.
Lop ear
MedGen UID:
504430
Concept ID:
CN000368
Finding
Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.
Overfolded helix
MedGen UID:
500886
Concept ID:
CN000370
Finding
A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
Mixed hearing impairment
MedGen UID:
504437
Concept ID:
CN000383
Finding
A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.
External ear malformation
MedGen UID:
506236
Concept ID:
CN007542
Finding
A malformation of the auricle of the ear.
Abnormality of the antihelix
MedGen UID:
447118
Concept ID:
CN008598
Finding
An abnormality of the antihelix.
Hypoplasia of the ear cartilage
MedGen UID:
451977
Concept ID:
CN117611
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Dysphagia
MedGen UID:
342867
Concept ID:
C1853381
Finding
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Incoordination
MedGen UID:
351047
Concept ID:
C1864113
Finding
Anosmia
MedGen UID:
504449
Concept ID:
CN000428
Finding
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.
Autism
MedGen UID:
504569
Concept ID:
CN000674
Finding
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Obsessive-compulsive behavior
MedGen UID:
504572
Concept ID:
CN000679
Finding
Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV).
Growth hormone deficiency
MedGen UID:
428231
Concept ID:
CN000771
Finding
Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.
Anterior hypopituitarism
MedGen UID:
504614
Concept ID:
CN000776
Finding
A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.
Dandy-Walker malformation
MedGen UID:
504796
Concept ID:
CN001196
Finding
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Holoprosencephaly
MedGen UID:
504813
Concept ID:
CN001246
Finding
Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.
Arrhinencephaly
MedGen UID:
505122
Concept ID:
CN001938
Finding
Neurological speech impairment
MedGen UID:
446437
Concept ID:
CN001964
Finding
Aqueductal stenosis
MedGen UID:
505228
Concept ID:
CN002189
Finding
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.
Abnormality of the sense of smell
MedGen UID:
428082
Concept ID:
CN003905
Finding
An anomaly in the ability to perceive and distinguish scents (odors).
Attention deficit hyperactivity disorder
MedGen UID:
506017
Concept ID:
CN006126
Finding
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Aplasia/Hypoplasia of the cerebellum
MedGen UID:
429099
Concept ID:
CN006441
Finding
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
425895
Concept ID:
CN006451
Finding
Absence or underdevelopment of the corpus callosum.
Gonadotropin deficiency
MedGen UID:
446902
Concept ID:
CN007216
Finding
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).
Facial palsy
MedGen UID:
506391
Concept ID:
CN009454
Finding
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.
Self-injurious behavior
MedGen UID:
506521
Concept ID:
CN117607
Finding
Aggression towards oneself.
Abnormality of the nipple
MedGen UID:
824919
Concept ID:
C3839073
Finding
Delayed puberty
MedGen UID:
373889
Concept ID:
C1838105
Finding
Hypothyroidism
MedGen UID:
413085
Concept ID:
C2750951
Finding
Aplasia/Hypoplasia of the thymus
MedGen UID:
479634
Concept ID:
C3278004
Finding
Hypogonadotrophic hypogonadism
MedGen UID:
504316
Concept ID:
CN000044
Finding
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).
Growth hormone deficiency
MedGen UID:
428231
Concept ID:
CN000771
Finding
Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.
Anterior hypopituitarism
MedGen UID:
504614
Concept ID:
CN000776
Finding
A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.
Abnormality of the adrenal glands
MedGen UID:
427841
Concept ID:
CN000780
Finding
Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.
Parathyroid hypoplasia
MedGen UID:
504633
Concept ID:
CN000806
Finding
Developmental hypoplasia of the parathyroid gland.
Gonadotropin deficiency
MedGen UID:
446902
Concept ID:
CN007216
Finding
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).
Triphalangeal thumb
MedGen UID:
372088
Concept ID:
C1835605
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Vertebral segmentation defect
MedGen UID:
338574
Concept ID:
C1848939
Finding
Absent radius
MedGen UID:
340290
Concept ID:
C1849314
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Tibial deviation of toes
MedGen UID:
812863
Concept ID:
C3806533
Finding
Sinusitis
MedGen UID:
504406
Concept ID:
CN000238
Finding
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Abnormality of the ribs
MedGen UID:
427835
Concept ID:
CN000726
Finding
An anomaly of the rib.
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Hand polydactyly
MedGen UID:
446393
Concept ID:
CN001091
Finding
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Split hand
MedGen UID:
504754
Concept ID:
CN001098
Finding
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Preaxial hand polydactyly
MedGen UID:
428248
Concept ID:
CN001102
Finding
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
Dandy-Walker malformation
MedGen UID:
504796
Concept ID:
CN001196
Finding
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Joint hypermobility
MedGen UID:
504821
Concept ID:
CN001265
Finding
The ability of a joint to move beyond its normal range of motion.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Abnormality of the femur
MedGen UID:
446457
Concept ID:
CN002549
Finding
Abnormality of the femur.
Hemivertebrae
MedGen UID:
505412
Concept ID:
CN002658
Finding
Absence of one half of the vertebral body.
Abnormality of the tibia
MedGen UID:
446462
Concept ID:
CN002706
Finding
Abnormality of the tibia (shinbone).
Hypoplasia of the ulna
MedGen UID:
446467
Concept ID:
CN002732
Finding
Underdevelopment of the ulna.
Abnormality of the shoulder
MedGen UID:
446468
Concept ID:
CN002749
Finding
An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.
Abnormality of the hip bone
MedGen UID:
425136
Concept ID:
CN002954
Finding
An abnormality of the hip bone.
Monodactyly (hands)
MedGen UID:
428416
Concept ID:
CN003677
Finding
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Short thumb
MedGen UID:
429443
Concept ID:
CN008636
Finding
Hypoplasia (congenital reduction in size) of the thumb.
Bifid femur
MedGen UID:
426713
Concept ID:
CN009274
Finding
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.
Cheekbone underdevelopment
MedGen UID:
430039
Concept ID:
CN009495
Finding
Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic process of the temporal bone of the skull, which forms the middle and lateral inferior orbital margin.
Increased bone mineral density
MedGen UID:
451275
Concept ID:
CN116733
Finding
An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.
Down-sloping shoulders
MedGen UID:
452075
Concept ID:
CN117762
Finding
Low set, steeply sloping shoulders.
Polyhydramnios
MedGen UID:
504854
Concept ID:
CN001423
Finding
The presence of excess amniotic fluid in the uterus during pregnancy.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Dysphagia
MedGen UID:
342867
Concept ID:
C1853381
Finding
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Omphalocele
MedGen UID:
504850
Concept ID:
CN001405
Finding
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.
Anal atresia
MedGen UID:
505058
Concept ID:
CN001831
Finding
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Anal stenosis
MedGen UID:
505059
Concept ID:
CN001833
Finding
Abnormal narrowing of the anal opening.
Esophageal atresia
MedGen UID:
505062
Concept ID:
CN001837
Finding
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.
Duodenal atresia
MedGen UID:
505168
Concept ID:
CN002038
Finding
A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.
Tracheoesophageal fistula
MedGen UID:
505275
Concept ID:
CN002337
Finding
An abnormal connection (fistula) between the esophagus and the trachea.
Deep palmar crease
MedGen UID:
387849
Concept ID:
C1857539
Finding
Preauricular skin tag
MedGen UID:
504427
Concept ID:
CN000359
Finding
A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear).
Abnormal palmar dermatoglyphics
MedGen UID:
427852
Concept ID:
CN000954
Finding
An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.
Abnormality of the fingernails
MedGen UID:
446395
Concept ID:
CN001134
Finding
An abnormality of the fingernails.
Highly arched eyebrow
MedGen UID:
500931
Concept ID:
CN002318
Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Ventricular septal defect
MedGen UID:
347827
Concept ID:
C1859213
Finding
Defect in the atrial septum
MedGen UID:
504879
Concept ID:
CN001485
Finding
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.
Tetralogy of Fallot
MedGen UID:
504882
Concept ID:
CN001489
Finding
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.
Pulmonic stenosis
MedGen UID:
504885
Concept ID:
CN001495
Finding
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).
Patent ductus arteriosus
MedGen UID:
504886
Concept ID:
CN001496
Finding
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.
Abnormality of the aorta
MedGen UID:
425067
Concept ID:
CN001528
Finding
An abnormality of the aorta.
Double outlet right ventricle
MedGen UID:
504930
Concept ID:
CN001564
Finding
Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.
Lymphopenia
MedGen UID:
409568
Concept ID:
C1963164
Finding
Hypocalcemia
MedGen UID:
505397
Concept ID:
CN002624
Finding
An abnormally decreased calcium concentration in the blood.
Respiratory insufficiency
MedGen UID:
155440
Concept ID:
C0748358
Finding
Laryngomalacia
MedGen UID:
504867
Concept ID:
CN001457
Finding
Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
Tracheoesophageal fistula
MedGen UID:
505275
Concept ID:
CN002337
Finding
An abnormal connection (fistula) between the esophagus and the trachea.
Cellular immunodeficiency
MedGen UID:
344444
Concept ID:
C1855204
Finding
Lymphopenia
MedGen UID:
409568
Concept ID:
C1963164
Finding
Aplasia/Hypoplasia of the thymus
MedGen UID:
479634
Concept ID:
C3278004
Finding
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Facial palsy
MedGen UID:
506391
Concept ID:
CN009454
Finding
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.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Omphalocele
MedGen UID:
504850
Concept ID:
CN001405
Finding
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.
Triphalangeal thumb
MedGen UID:
372088
Concept ID:
C1835605
Finding
Absent radius
MedGen UID:
340290
Concept ID:
C1849314
Finding
Deep palmar crease
MedGen UID:
387849
Concept ID:
C1857539
Finding
Tibial deviation of toes
MedGen UID:
812863
Concept ID:
C3806533
Finding
Abnormal palmar dermatoglyphics
MedGen UID:
427852
Concept ID:
CN000954
Finding
An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.
Brachydactyly syndrome
MedGen UID:
500899
Concept ID:
CN001088
Finding
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Hand polydactyly
MedGen UID:
446393
Concept ID:
CN001091
Finding
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Split hand
MedGen UID:
504754
Concept ID:
CN001098
Finding
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Preaxial hand polydactyly
MedGen UID:
428248
Concept ID:
CN001102
Finding
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
Talipes
MedGen UID:
504986
Concept ID:
CN001703
Finding
A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
Abnormality of the femur
MedGen UID:
446457
Concept ID:
CN002549
Finding
Abnormality of the femur.
Abnormality of the tibia
MedGen UID:
446462
Concept ID:
CN002706
Finding
Abnormality of the tibia (shinbone).
Hypoplasia of the ulna
MedGen UID:
446467
Concept ID:
CN002732
Finding
Underdevelopment of the ulna.
Monodactyly (hands)
MedGen UID:
428416
Concept ID:
CN003677
Finding
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Short thumb
MedGen UID:
429443
Concept ID:
CN008636
Finding
Hypoplasia (congenital reduction in size) of the thumb.
Bifid femur
MedGen UID:
426713
Concept ID:
CN009274
Finding
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGCHARGE association

Professional guidelines

PubMed

Blake K, van Ravenswaaij-Arts CM, Hoefsloot L, Verloes A
Eur J Hum Genet 2011 Sep;19(9) Epub 2011 Mar 16 doi: 10.1038/ejhg.2011.45. [Epub ahead of print] PMID: 21407266Free PMC Article

Recent clinical studies

Etiology

Lina-Granade G, Porot M, Vesson JF, Truy E
Cochlear Implants Int 2010 Jun;11 Suppl 1:187-91. doi: 10.1179/146701010X12671177818704. PMID: 21756609
Jardón J, Izquierdo NJ
Bol Asoc Med P R 2009 Apr-Jun;101(2):39-41. PMID: 19954100
Sanlaville D, Romana SP, Lapierre JM, Amiel J, Genevieve D, Ozilou C, Le Lorch M, Brisset S, Gosset P, Baumann C, Turleau C, Lyonnet S, Vekemans M
Clin Genet 2002 Feb;61(2):135-8. PMID: 11940088
Källén K, Robert E, Mastroiacovo P, Castilla EE, Källén B
Teratology 1999 Dec;60(6):334-43. doi: 10.1002/(SICI)1096-9926(199912)60:6<334::AID-TERA5>3.0.CO;2-S. PMID: 10590394
Koletzko B, Majewski F
Eur J Pediatr 1984 Sep;142(4):271-5. PMID: 6489378

Diagnosis

Esposito A, Tufano M, Di Donato I, Rezzuto M, Improda N, Melis D, Salerno M
Ital J Pediatr 2014 Jun 2;40:51. doi: 10.1186/1824-7288-40-51. [Epub ahead of print] PMID: 24890892Free PMC Article
Lina-Granade G, Porot M, Vesson JF, Truy E
Cochlear Implants Int 2010 Jun;11 Suppl 1:187-91. doi: 10.1179/146701010X12671177818704. PMID: 21756609
Bech AP, op den Akker J, Matthijsse PR
Congenit Anom (Kyoto) 2010 Sep;50(3):200-2. Epub 2010 Jun 24 doi: 10.1111/j.1741-4520.2010.00283.x. [Epub ahead of print] PMID: 20584036
Sanlaville D, Romana SP, Lapierre JM, Amiel J, Genevieve D, Ozilou C, Le Lorch M, Brisset S, Gosset P, Baumann C, Turleau C, Lyonnet S, Vekemans M
Clin Genet 2002 Feb;61(2):135-8. PMID: 11940088
Byerly KA, Pauli RM
Am J Med Genet 1993 Mar 15;45(6):751-7. doi: 10.1002/ajmg.1320450617. PMID: 8053985

Therapy

Esposito A, Tufano M, Di Donato I, Rezzuto M, Improda N, Melis D, Salerno M
Ital J Pediatr 2014 Jun 2;40:51. doi: 10.1186/1824-7288-40-51. [Epub ahead of print] PMID: 24890892Free PMC Article
Lina-Granade G, Porot M, Vesson JF, Truy E
Cochlear Implants Int 2010 Jun;11 Suppl 1:187-91. doi: 10.1179/146701010X12671177818704. PMID: 21756609
Theodoropoulos DS
Clin Med Res 2003 Jan;1(1):43-8. PMID: 15931284Free PMC Article
Sanlaville D, Romana SP, Lapierre JM, Amiel J, Genevieve D, Ozilou C, Le Lorch M, Brisset S, Gosset P, Baumann C, Turleau C, Lyonnet S, Vekemans M
Clin Genet 2002 Feb;61(2):135-8. PMID: 11940088
Källén K, Robert E, Mastroiacovo P, Castilla EE, Källén B
Teratology 1999 Dec;60(6):334-43. doi: 10.1002/(SICI)1096-9926(199912)60:6<334::AID-TERA5>3.0.CO;2-S. PMID: 10590394

Prognosis

Lina-Granade G, Porot M, Vesson JF, Truy E
Cochlear Implants Int 2010 Jun;11 Suppl 1:187-91. doi: 10.1179/146701010X12671177818704. PMID: 21756609
Bech AP, op den Akker J, Matthijsse PR
Congenit Anom (Kyoto) 2010 Sep;50(3):200-2. Epub 2010 Jun 24 doi: 10.1111/j.1741-4520.2010.00283.x. [Epub ahead of print] PMID: 20584036
Theodoropoulos DS
Clin Med Res 2003 Jan;1(1):43-8. PMID: 15931284Free PMC Article
Bauer PW, Wippold FJ 2nd, Goldin J, Lusk RP
Arch Otolaryngol Head Neck Surg 2002 Sep;128(9):1013-7. PMID: 12220204
Koletzko B, Majewski F
Eur J Pediatr 1984 Sep;142(4):271-5. PMID: 6489378

Clinical prediction guides

Fuentes-Páez G, Saornil MA, Herreras JM, Alonso-Ballesteros M, Sánchez PS, García-Tejeiro M
Cornea 2007 Aug;26(7):864-7. doi: 10.1097/ICO.0b013e31806c77d6. PMID: 17667624
Theodoropoulos DS
Clin Med Res 2003 Jan;1(1):43-8. PMID: 15931284Free PMC Article
Guirgis MF, Lueder GT
Am J Ophthalmol 2003 Jun;135(6):919-20. PMID: 12788148
Katai N, Urakawa Y, Sato Y, Miyanaga K, Segawa K, Yoshimura N
Acta Ophthalmol Scand 1997 Jun;75(3):322-4. PMID: 9253988
Koletzko B, Majewski F
Eur J Pediatr 1984 Sep;142(4):271-5. PMID: 6489378

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