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Abnormality of the nervous system

MedGen UID:
105425
Concept ID:
C0497552
Congenital Abnormality
Synonym: Congenital nervous system disorder
SNOMED CT: Congenital anomaly of nervous system (88425004); Congenital disease of nervous system (88425004); Congenital lesion of nervous system (88425004); Congenital deformity of nervous system (88425004); Congenital malformation of the nervous system (88425004)
 
HPO: HP:0000707
Monarch Initiative: MONDO:0002320

Definition

An abnormality of the nervous system. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormality of the nervous system

Conditions with this feature

Diastematomyelia
MedGen UID:
3801
Concept ID:
C0011999
Congenital Abnormality
A rare, neural tube defect characterized by localized longitudinal division of the spinal cord with an interposed osseous, cartilaginous or fibrous septum and double dural sac, typically occurring at the thoracic or lumbar level. Local vertebral segmental defects, syringomyelia, meningocele and intraspinal tumors may be associated. Variable clinical presentation includes pain, scoliosis, asymmetry and weakness of the lower limbs, neurological deficits, sphincter dysfunction, and various cutaneous abnormalities overlying the spine, such as hypertrichosis, dimple, hemangioma, subcutaneous mass or pigmented nevus.
Motion sickness
MedGen UID:
44503
Concept ID:
C0026603
Disease or Syndrome
A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting.
Batten-Turner congenital myopathy
MedGen UID:
10158
Concept ID:
C0027127
Disease or Syndrome
Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the "warm-up" phenomenon). Muscles are usually hypertrophic. Whereas autosomal recessive (AR) myotonia congenita is often associated with more severe manifestations (such as progressive minor distal weakness and attacks of transient weakness brought on by movement after rest), autosomal dominant (AD) myotonia congenita is not. The age of onset varies: in AD myotonia congenita onset is usually in infancy or early childhood; in AR myotonia congenita the average age of onset is slightly older. In both AR and AD myotonia congenita onset may be as late as the third or fourth decade of life.
Cervical rib
MedGen UID:
102359
Concept ID:
C0158779
Congenital Abnormality
Presence of rib formation in the cervical region.
Idiopathic hypereosinophilic syndrome
MedGen UID:
61525
Concept ID:
C0206141
Disease or Syndrome
PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRA-associated chronic eosinophilic leukemia.\n\nAnother characteristic feature of PDGFRA-associated chronic eosinophilic leukemia is organ damage caused by the excess eosinophils. Eosinophils release substances to aid in the immune response, but the release of excessive amounts of these substances causes damage to one or more organs, most commonly the heart, skin, lungs, or nervous system. Eosinophil-associated organ damage can lead to a heart condition known as eosinophilic endomyocardial disease, skin rashes, coughing, difficulty breathing, swelling (edema) in the lower limbs, confusion, changes in behavior, or impaired movement or sensations. People with PDGFRA-associated chronic eosinophilic leukemia can also have an enlarged spleen (splenomegaly) and elevated levels of certain chemicals called vitamin B12 and tryptase in the blood.\n\nSome people with PDGFRA-associated chronic eosinophilic leukemia have an increased number of other types of white blood cells, such as neutrophils or mast cells. Occasionally, people with PDGFRA-associated chronic eosinophilic leukemia develop other blood cell cancers, such as acute myeloid leukemia or B-cell or T-cell acute lymphoblastic leukemia or lymphoblastic lymphoma.\n\nPDGFRA-associated chronic eosinophilic leukemia is often grouped with a related condition called hypereosinophilic syndrome. These two conditions have very similar signs and symptoms; however, the cause of hypereosinophilic syndrome is unknown.
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
MedGen UID:
98032
Concept ID:
C0406709
Disease or Syndrome
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.
Thumbs, congenital Clasped
MedGen UID:
98140
Concept ID:
C0431886
Congenital Abnormality
In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
Jumping Frenchmen of Maine
MedGen UID:
224824
Concept ID:
C1280764
Mental or Behavioral Dysfunction
Myopia 2, autosomal dominant
MedGen UID:
331770
Concept ID:
C1834531
Disease or Syndrome
Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004). Genetic Heterogeneity of Susceptibility to Myopia MYP2 maps to chromosome 18p. Other myopia loci include MYP1 (310460) on Xq28; MYP3 (603221) on 12q21-q23; MYP5 (608474) on 17q21-q22; MYP6 (608908), caused by mutation in the SCO2 gene (602474) on 22q13; MYP7 (609256) on 11p13; MYP8 (609257) on 3q26; MYP9 (609258) on 4q12; MYP10 (609259) on 8p23; MYP11 (609994) on 4q22-q27; MYP12 (609995) on 2q37.1; MYP13 (300613) on Xq23-q27; MYP14 (610320) on 1p36; MYP15 (612717) on 10q21.1; MYP16 (612554) on 5p15.33-p15.2; MYP17 (formerly MYP4) (608367) on 7p15; MYP18 (255500) on chromosome 14q22-q24; MYP19 (613969) on 5p15.1-p13.3; MYP20 (614166) on 13q12.12; MYP21 (614167), caused by mutation in the ZNF644 gene (614159) on 1p22; MYP22 (615420), caused by mutation in the CCDC111 gene (615421) on 4q35; MYP23 (615431), caused by mutation in the LRPAP1 gene (104225) on 4p16; MYP24 (615946), caused by mutation in the SLC39A5 gene (608730) on 12q13; MYP25 (617238), caused by mutation in the P4HA2 gene (600608) on 5q31; MYP26 (301010), caused by mutation in the ARR3 gene (301770) on Xq13; MYP27 (618827), caused by mutation in the CPSF1 gene (606027) on 8q24; and MYP28 (619781), caused by mutation in the LOXL3 gene (607163) on 2p13.
Meralgia paraesthetica, familial
MedGen UID:
322555
Concept ID:
C1835026
Disease or Syndrome
Systemic lupus erythematosus, susceptibility to, 6
MedGen UID:
332086
Concept ID:
C1835919
Finding
Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs.\n\nSLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.\n\nPeople with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.\n\nAbout a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.
Griscelli syndrome type 3
MedGen UID:
373124
Concept ID:
C1836573
Disease or Syndrome
Griscelli syndrome type 3 (GS3) is a rare autosomal recessive disorder that results in a characteristic pigmentary dilution of the skin and hair, which shows a silvery-gray sheen associated with large clumps of pigment in hair shafts and an abnormal accumulation of end-stage melanosomes in the center of melanocytes. There are no immunologic or neurologic manifestations (summary by Menasche et al., 2003). For a discussion of phenotypic and genetic heterogeneity in Griscelli syndrome, see GS1 (214450).
Schizophrenia 3
MedGen UID:
324936
Concept ID:
C1838069
Mental or Behavioral Dysfunction
A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23.
Spatial visualization, aptitude for
MedGen UID:
326850
Concept ID:
C1839262
Finding
Modifier, X-linked, for Neurofunctional defects
MedGen UID:
326945
Concept ID:
C1839708
Disease or Syndrome
Clonic hemifacial spasm
MedGen UID:
374760
Concept ID:
C1841639
Disease or Syndrome
Hemifacial spasm is usually diagnosed in persons in their mid-forties. It often begins with involuntary clonic contractions or twitching of the orbicularis oculi muscle and progresses to involve the entire musculature innervated by the facial nerve (summary by Coad et al., 1991 and Miwa et al., 2002).
Granulomas, congenital cerebral
MedGen UID:
336683
Concept ID:
C1844406
Disease or Syndrome
CGF1
MedGen UID:
338395
Concept ID:
C1848140
Disease or Syndrome
Tricarboxylic acid cycle, defect of
MedGen UID:
376430
Concept ID:
C1848746
Disease or Syndrome
Discrimination, Two-point, reduction 1N
MedGen UID:
343713
Concept ID:
C1852074
Finding
Intrinsic factor and r binder, combined congenital deficiency of
MedGen UID:
340942
Concept ID:
C1855721
Disease or Syndrome
Cerebral sclerosis similar to Pelizaeus-Merzbacher disease
MedGen UID:
395210
Concept ID:
C1859258
Disease or Syndrome
Cerebral angiopathy, dysphoric
MedGen UID:
349128
Concept ID:
C1859283
Disease or Syndrome
Arthrogryposis multiplex congenita-whistling face syndrome
MedGen UID:
349231
Concept ID:
C1859711
Disease or Syndrome
An extremely rare type of arthrogryposis multiplex congenita with the combination of multiple joint contractures with movement limitation and microstomia with a whistling appearance of the mouth that may cause feeding, swallowing and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction, occasionally Pierre-Robin sequence and lethality generally occurring during the first months of life.
Trichorhinophalangeal syndrome, type III
MedGen UID:
349899
Concept ID:
C1860823
Disease or Syndrome
Trichorhinophalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities. Craniofacial features include sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose, protruding ears, long flat philtrum, and thin upper vermillion border. The most typical radiographic findings in TRPS are cone-shaped epiphyses, predominantly at the middle phalanges. Hip malformations such as coxa plana, coxa magna, or coxa vara are present in over 70% of patients. In older patients, the hip abnormalities resemble degenerative arthrosis. TRPS3 differs from TRPS1 by the presence of severe brachydactyly, due to short metacarpals, and severe short stature (summary by Ludecke et al., 2001).
Cochleosaccular degeneration-cataract syndrome
MedGen UID:
348378
Concept ID:
C1861512
Disease or Syndrome
Rare syndrome with manifestation of progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far reported in two families. Transmission is autosomal dominant.
Klippel-Feil syndrome 1, autosomal dominant
MedGen UID:
396196
Concept ID:
C1861689
Disease or Syndrome
Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.\n\nIn people with Klippel-Feil syndrome, the fused vertebrae can limit the range of movement of the neck and back as well as lead to chronic headaches and muscle pain in the neck and back that range in severity. People with minimal bone involvement often have fewer problems compared to individuals with several vertebrae affected. The shortened neck can cause a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). Trauma to the spine, such as a fall or car accident, can aggravate problems in the fused area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal sensations or involuntary movements in people with Klippel-Feil syndrome. Affected individuals may develop a painful joint disorder called osteoarthritis around the areas of fused bone or experience painful involuntary tensing of the neck muscles (cervical dystonia). In addition to the fused cervical bones, people with this condition may have abnormalities in other vertebrae. Many people with Klippel-Feil syndrome have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae; fusion of additional vertebrae below the neck may also occur.\n\nIn some cases, Klippel-Feil syndrome occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these instances, affected individuals have the signs and symptoms of both Klippel-Feil syndrome and the additional disorder.\n\nPeople with Klippel-Feil syndrome may have a wide variety of other features in addition to their spine abnormalities. Some people with this condition have hearing difficulties, eye abnormalities, an opening in the roof of the mouth (cleft palate), genitourinary problems such as abnormal kidneys or reproductive organs, heart abnormalities, or lung defects that can cause breathing problems. Affected individuals may have other skeletal defects including arms or legs of unequal length (limb length discrepancy), which can result in misalignment of the hips or knees. Additionally, the shoulder blades may be underdeveloped so that they sit abnormally high on the back, a condition called Sprengel deformity. Rarely, structural brain abnormalities or a type of birth defect that occurs during the development of the brain and spinal cord (neural tube defect) can occur in people with Klippel-Feil syndrome.
Peroneal nerve, accessory deep
MedGen UID:
358317
Concept ID:
C1868426
Disease or Syndrome
Thrombophilia due to protein C deficiency, autosomal dominant
MedGen UID:
436138
Concept ID:
C2674321
Disease or Syndrome
Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984). Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C.
Vestibulocochlear dysfunction, progressive
MedGen UID:
419730
Concept ID:
C2931176
Disease or Syndrome
UV-sensitive syndrome 1
MedGen UID:
764087
Concept ID:
C3551173
Disease or Syndrome
UV-sensitive syndrome-1 (UVSS1) is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Horibata et al., 2004). Genetic Heterogeneity of UV-Sensitive Syndrome See also UVSS2 (614621), caused by mutation in the ERCC8 gene (609412) on chromosome 5q12, and UVSS3 (614640), caused by mutation in the UVSSA gene (614632) on chromosome 4p16.
Ectodermal dysplasia 9, hair/nail type
MedGen UID:
767041
Concept ID:
C3554127
Disease or Syndrome
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by Lin et al., 2012).
Developmental delay, impaired speech, and behavioral abnormalities
MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).

Professional guidelines

PubMed

Reynolds RA, Vance EH, Shlobin NA, Bowman R, Rosseau G
Childs Nerv Syst 2023 Nov;39(11):3123-3130. Epub 2023 Apr 26 doi: 10.1007/s00381-023-05955-8. PMID: 37099139

Recent clinical studies

Diagnosis

Conomy JP, Barnes KL, Conomy JM
J Neurol Neurosurg Psychiatry 1979 Jul;42(7):656-61. doi: 10.1136/jnnp.42.7.656. PMID: 479906Free PMC Article

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