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Items: 1 to 20 of 83

1.

Walker-Warburg congenital muscular dystrophy

Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. Muscle weakness typically presents from birth to early infancy. Affected infants typically appear "floppy" with low muscle tone and poor spontaneous movements. Affected children may present with delay or arrest of gross motor development together with joint and/or spinal rigidity. Muscle weakness may improve, worsen, or stabilize in the short term; however, with time progressive weakness and joint contractures, spinal deformities, and respiratory compromise may affect quality of life and life span. The main CMD subtypes, grouped by involved protein function and gene in which causative allelic variants occur, are laminin alpha-2 (merosin) deficiency (MDC1A), collagen VI-deficient CMD, the dystroglycanopathies (caused by mutation of POMT1, POMT2, FKTN, FKRP, LARGE1, POMGNT1, and ISPD), SELENON (SEPN1)-related CMD (previously known as rigid spine syndrome, RSMD1) and LMNA-related CMD (L-CMD). Several less known CMD subtypes have been reported in a limited number of individuals. Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and seizures are found almost exclusively in the dystroglycanopathies while white matter abnormalities without major cognitive involvement tend to be seen in the laminin alpha-2-deficient subtype. [from GTR]

MedGen UID:
75553
Concept ID:
C0265221
Disease or Syndrome
2.

Walker-Warburg Syndrome

MedGen UID:
893553
Concept ID:
CN239483
Disease or Syndrome
3.

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1

Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. Muscle weakness typically presents from birth to early infancy. Affected infants typically appear "floppy" with low muscle tone and poor spontaneous movements. Affected children may present with delay or arrest of gross motor development together with joint and/or spinal rigidity. Muscle weakness may improve, worsen, or stabilize in the short term; however, with time progressive weakness and joint contractures, spinal deformities, and respiratory compromise may affect quality of life and life span. The main CMD subtypes, grouped by involved protein function and gene in which causative allelic variants occur, are laminin alpha-2 (merosin) deficiency (MDC1A), collagen VI-deficient CMD, the dystroglycanopathies (caused by mutation of POMT1, POMT2, FKTN, FKRP, LARGE1, POMGNT1, and ISPD), SELENON (SEPN1)-related CMD (previously known as rigid spine syndrome, RSMD1) and LMNA-related CMD (L-CMD). Several less known CMD subtypes have been reported in a limited number of individuals. Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and seizures are found almost exclusively in the dystroglycanopathies while white matter abnormalities without major cognitive involvement tend to be seen in the laminin alpha-2-deficient subtype. [from GTR]

MedGen UID:
881151
Concept ID:
CN033898
Disease or Syndrome
4.

Congenital cerebellar hypoplasia

Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures. [from NCI]

MedGen UID:
120578
Concept ID:
C0266470
Congenital Abnormality
5.

Irido-corneo-trabecular dysgenesis

Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Patients with ASGD5 have been reported with the Peters anomaly, Axenfeld anomaly, and Rieger anomaly subtypes. Peters anomaly consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea (Peters, 1906). It occurs as an isolated ocular abnormality or in association with other ocular defects. In Axenfeld anomaly, strands of iris tissue attach to the Schwalbe line; in Rieger anomaly, in addition to the attachment of iris tissue to the Schwalbe line, there is clinically evident iris stromal atrophy with hole or pseudo-hole formation and corectopia (summary by Smith and Traboulsi, 2012). [from GTR]

MedGen UID:
91031
Concept ID:
C0344559
Congenital Abnormality
6.

Lissencephaly

A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure. [from HPO]

MedGen UID:
78604
Concept ID:
C0266463
Congenital Abnormality; Finding
7.

Cataract

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. [from HPO]

MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality; Finding; Finding
8.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
9.

Hydrocephalus

Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28. [from GTR]

MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
10.

Agenesis

A congenital abnormality resulting in the absence of an anatomical structure. [from NCI]

MedGen UID:
7816
Concept ID:
C0000846
Congenital Abnormality
11.

Lissencephaly, Recessive

MedGen UID:
893379
Concept ID:
CN239458
Disease or Syndrome
12.

Brain abnormalities

MedGen UID:
850740
Concept ID:
CN231474
Finding
13.

Abnormality of the ocular region

MedGen UID:
803735
Concept ID:
CN208099
Finding
14.

Congenital glaucoma

Congenital glaucoma (CG) is a developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm. [from ORDO]

MedGen UID:
798310
Concept ID:
CN207233
Congenital Abnormality
15.

Dystrophy

a degenerative disorder [from CHV]

MedGen UID:
569248
Concept ID:
C0333606
Pathologic Function
16.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
17.

Hypoplasia

Incomplete or underdevelopment of a tissue or organ. [from NCI]

MedGen UID:
537146
Concept ID:
C0243069
Pathologic Function
18.

Congenital muscular dystrophy

MedGen UID:
505584
Concept ID:
CN003380
Finding
19.

Lissencephaly

A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure. [from HPO]

MedGen UID:
504808
Concept ID:
CN001227
Finding
20.

Cerebellar hypoplasia

Underdevelopment of the cerebellum. [from HPO]

MedGen UID:
504799
Concept ID:
CN001210
Finding
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