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Cerebellar atrophy, visual impairment, and psychomotor retardation(CAVIPMR)

MedGen UID:
905041
Concept ID:
C4225172
Disease or Syndrome
Synonyms: CAVIPMR
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): EMC1 (1p36.13)
OMIM®: 616875

Clinical features

Prominent fingertip pads
MedGen UID:
322758
Concept ID:
C1835807
Finding
A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.
Limb hypertonia
MedGen UID:
333083
Concept ID:
C1838391
Finding
Anal atresia
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Dystonia
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Corpus callosum atrophy
MedGen UID:
96560
Concept ID:
C0431370
Finding
The presence of atrophy (wasting) of the corpus callosum.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Sign or Symptom
Reduction of neurologic reflexes such as the knee-jerk reaction.
Limb hypertonia
MedGen UID:
333083
Concept ID:
C1838391
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Postnatal microcephaly
MedGen UID:
339779
Concept ID:
C1847514
Finding
Microcephaly (HP:0000252) with onset in the postnatal period, that is, the head circumference is in the normal range at birth but falls behind normal values later in development.
Cerebral atrophy
MedGen UID:
892664
Concept ID:
C4020860
Disease or Syndrome
Cerebellar atrophy
MedGen UID:
892891
Concept ID:
C4020873
Disease or Syndrome
Global developmental delay
MedGen UID:
892935
Concept ID:
C4020875
Pathologic Function
Laryngotracheomalacia
MedGen UID:
107947
Concept ID:
C0585984
Anatomical Abnormality
Limb hypertonia
MedGen UID:
333083
Concept ID:
C1838391
Finding
Muscular hypotonia of the trunk
MedGen UID:
342959
Concept ID:
C1853743
Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes.
Scoliosis
MedGen UID:
21278
Concept ID:
C0037932
Finding
Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS).
Prominent fingertip pads
MedGen UID:
322758
Concept ID:
C1835807
Finding
A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.
Postnatal microcephaly
MedGen UID:
339779
Concept ID:
C1847514
Finding
Microcephaly (HP:0000252) with onset in the postnatal period, that is, the head circumference is in the normal range at birth but falls behind normal values later in development.
Retrognathia
MedGen UID:
488375
Concept ID:
C3494422
Finding
A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead.
Deeply set eye
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
Abnormal recession of the eyeball within the eye socket.
Gingival overgrowth
MedGen UID:
6603
Concept ID:
C0017567
Disease or Syndrome
Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes.
Low anterior hairline
MedGen UID:
331280
Concept ID:
C1842366
Finding
Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
Postnatal microcephaly
MedGen UID:
339779
Concept ID:
C1847514
Finding
Microcephaly (HP:0000252) with onset in the postnatal period, that is, the head circumference is in the normal range at birth but falls behind normal values later in development.
Short upper lip
MedGen UID:
338587
Concept ID:
C1848977
Finding
Decreased width of the upper lip.
Short philtrum
MedGen UID:
350006
Concept ID:
C1861324
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Retrognathia
MedGen UID:
488375
Concept ID:
C3494422
Finding
A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead.
Prominent fingertip pads
MedGen UID:
322758
Concept ID:
C1835807
Finding
A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.
Low anterior hairline
MedGen UID:
331280
Concept ID:
C1842366
Finding
Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
Astigmatism
MedGen UID:
2473
Concept ID:
C0004106
Disease or Syndrome
Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by Clementi et al., 1998).
Deeply set eye
MedGen UID:
8638
Concept ID:
C0014306
Disease or Syndrome
Abnormal recession of the eyeball within the eye socket.
Esotropia
MedGen UID:
4550
Concept ID:
C0014877
Disease or Syndrome
A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a "cross-eye" appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.
Hypermetropia
MedGen UID:
43780
Concept ID:
C0020490
Disease or Syndrome
A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.Nearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.For normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.Nearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.Eye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.
Cortical visual impairment
MedGen UID:
57834
Concept ID:
C0155320
Disease or Syndrome
Total loss of vision in all or part of the visual field due to bilateral OCCIPITAL LOBE (i.e., VISUAL CORTEX) damage or dysfunction. Anton syndrome is characterized by the psychic denial of true, organic cortical blindness. (Adams et al., Principles of Neurology, 6th ed, p460)
Abnormality of visual evoked potentials
MedGen UID:
105509
Concept ID:
C0522214
Finding
An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.
Abnormal electroretinogram
MedGen UID:
341512
Concept ID:
C1849688
Finding

Recent clinical studies

Diagnosis

Seeman P, Paderova K, Benes V Jr, Sistermans EA
Int J Mol Med 2002 Feb;9(2):125-9. PMID: 11786921
Chou YH, Lin MY, Wang PJ, Wang TR, Shen YZ
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1992 May-Jun;33(3):212-7. PMID: 1514415
Palo J, Santavuori P, Haltia M
Riv Patol Nerv Ment 1976 Aug;97(4):191-8. PMID: 1032035

Prognosis

Geetha TS, Lingappa L, Jain AR, Govindan H, Mandloi N, Murugan S, Gupta R, Vedam R
Mol Genet Genomic Med 2018 Mar;6(2):282-287. Epub 2017 Dec 22 doi: 10.1002/mgg3.352. PMID: 29271071Free PMC Article
Seeman P, Paderova K, Benes V Jr, Sistermans EA
Int J Mol Med 2002 Feb;9(2):125-9. PMID: 11786921
Chou YH, Lin MY, Wang PJ, Wang TR, Shen YZ
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1992 May-Jun;33(3):212-7. PMID: 1514415

Clinical prediction guides

Geetha TS, Lingappa L, Jain AR, Govindan H, Mandloi N, Murugan S, Gupta R, Vedam R
Mol Genet Genomic Med 2018 Mar;6(2):282-287. Epub 2017 Dec 22 doi: 10.1002/mgg3.352. PMID: 29271071Free PMC Article
Seeman P, Paderova K, Benes V Jr, Sistermans EA
Int J Mol Med 2002 Feb;9(2):125-9. PMID: 11786921
Palo J, Santavuori P, Haltia M
Riv Patol Nerv Ment 1976 Aug;97(4):191-8. PMID: 1032035

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