Generalized hypotonia, and Corneal opacity

Diseases related with Generalized hypotonia and Corneal opacity

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Corneal opacity that can help you solving undiagnosed cases.

Top matches:

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).In sclerocornea there is congenital, nonprogressive corneal opacification that may be peripheral, sectoral, or central in location. Visual prognosis is related to the central corneal involvement. The cornea has a flat curvature. The majority of cases are bilateral (summary by Smith and Traboulsi, 2012).Isolated sclerocornea is caused by displacement of the limbal arcades and may be associated with cornea plana; in this condition, the anterior chamber is visible and the eye is not microphthalmic. In complex sclerocornea, however, corneal opacification is associated with microphthalmia, cataract, and/or infantile glaucoma. The central cornea is usually relatively clear, but the thickness is normal or increased, never reduced (summary by Nischal, 2007).

CONGENITAL CATARACT MICROCORNEA WITH CORNEAL OPACITY Is also known as copoa|sclerocornea with other ocular anomalies|corneal opacification with other ocular anomalies|ccmco

Related symptoms:

  • Generalized hypotonia
  • Cataract
  • Microphthalmia
  • Glaucoma
  • Corneal opacity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT MICROCORNEA WITH CORNEAL OPACITY

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 Is also known as linear skin defects with cardiomyopathy and other congenital anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Other less relevant matches:

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Buysse et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012).For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (OMIM ).

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6 Is also known as familial dysautonomia with contractures|hereditary sensory and autonomic neuropathy type vi|hsan6|hsan vi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6

Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME Is also known as oppg|osteogenesis imperfecta, ocular form|ocular form of osteogenesis imperfecta|ops

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4 Is also known as hsan iv|hsan4|cip-anhidrosis syndrome|neuropathy, congenital sensory, with anhidrosis|hereditary sensory and autonomic neuropathy type iv|hereditary sensory and autonomic neuropathy iv|familial dysautonomia, type ii|congenital insensitivity to pain-anhidr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4

Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv|sialolipidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOLIPIDOSIS IV; ML4

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Corneal opacity

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Microphthalmia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Corneal opacity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Myopia Muscular hypotonia Abnormality of the cerebral white matter Muscular dystrophy Congenital muscular dystrophy Elevated serum creatine phosphokinase Lissencephaly Hypoplasia of the corpus callosum Opacification of the corneal stroma Severe muscular hypotonia High myopia Hydrocephalus Cerebellar hypoplasia Glaucoma Intellectual disability, profound Type II lissencephaly Cerebellar cyst Dilatation Spasticity Visual impairment Microcephaly Ventriculomegaly Retinal dysplasia Hypoplasia of the brainstem Buphthalmos Agenesis of corpus callosum Nystagmus Strabismus

Rare Symptoms - Less than 30% cases

Pachygyria Cerebellar dysplasia Holoprosencephaly Decreased light- and dark-adapted electroretinogram amplitude Retinal degeneration Optic atrophy Congenital cataract Hypoplasia of the pons Agyria Fever Hyperhidrosis Cognitive impairment Coloboma Corneal scarring Blindness Dandy-Walker malformation Encephalocele Sensory neuropathy Peripheral neuropathy Cortical dysplasia Severe global developmental delay Neonatal hypotonia Feeding difficulties Respiratory insufficiency Hyporeflexia Pain Muscle weakness Sclerocornea Tachycardia Retinal dystrophy Polymicrogyria Growth delay Absent speech Myopathy Congenital glaucoma Intellectual disability, severe Cerebral calcification Ectopia lentis Hyperreflexia Abnormal facial shape Anemia Dystonia Ataxia Postural hypotension with compensatory tachycardia Cerebellar atrophy Coarse facial features Babinski sign Reduced visual acuity Skeletal dysplasia Hepatosplenomegaly Photophobia Abnormality of the nervous system Developmental regression Abnormality of eye movement Abnormality of the outer ear Decreased number of small peripheral myelinated nerve fibers Palmar hyperkeratosis Autoamputation of digits Self-mutilation Abnormal autonomic nervous system physiology Self-injurious behavior Emotional lability Keratitis Anhidrosis Osteomyelitis Bowel incontinence Impaired pain sensation Episodic fever Aseptic necrosis Heat intolerance Neuropathic arthropathy Lack of skin elasticity Recurrent corneal erosions Poor wound healing Lichenification Pain insensitivity Hypotrichosis of the scalp Abnormality of dental color Corneal ulceration Spastic tetraplegia Acral ulceration Esotropia Palpebral edema Progressive neurologic deterioration Optic nerve hypoplasia EEG abnormality Pallor Neurological speech impairment Abnormality of movement Everted lower lip vermilion Generalized muscle weakness EMG abnormality Aplasia/Hypoplasia of the corpus callosum Infantile muscular hypotonia Abnormality of the voice Midface retrusion Aplasia/Hypoplasia of the cerebellum Hemiplegia/hemiparesis Retinal atrophy Megalocornea Meningocele Undetectable electroretinogram Hypoglycosylation of alpha-dystroglycan Uncontrolled eye movements Hypoplasia of the retina Short nasal bridge Myoclonus Malar flattening Amblyopia Titubation Aspiration Iron deficiency anemia Thickened skin Severe vision loss Abnormality of abdomen morphology Increased serum ferritin Developmental stagnation Motor deterioration Microcornea Esodeviation Hypertonia Cerebral dysmyelination Dysplastic corpus callosum Hoarse cry Progressive psychomotor deterioration Oligosacchariduria Abnormality of mucopolysaccharide metabolism Truncal titubation Abnormality of ganglioside metabolism Micrognathia Gait disturbance Skin ulcer Nail dystrophy Febrile seizures Intrauterine growth retardation Cardiac arrest Motor delay Respiratory distress Dilated cardiomyopathy Muscular hypotonia of the trunk Cardiomyopathy Abnormality of skin pigmentation Retinal detachment Ventricular hypertrophy Left ventricular hypertrophy Renal cortical cysts Failure to thrive Aqueductal stenosis Severe hydrocephalus Flat cornea Low-set ears Flexion contracture High palate Polycoria Anterior synechiae of the anterior chamber Optic nerve dysplasia Ventricular tachycardia Areflexia Histiocytoid cardiomyopathy Leukodystrophy Poor head control Respiratory failure Cryptorchidism Macrocephaly Hyperpigmented streaks Micropenis Hydronephrosis Renal cyst Decreased testicular size Ventricular fibrillation Lacrimal duct atresia Heterotopia Renal dysplasia Cavum septum pellucidum Dilation of lateral ventricles Pericardial effusion Absent septum pellucidum Occipital encephalocele Anencephaly Talipes equinovarus Anterior segment developmental abnormality Nail dysplasia Severe platyspondyly Metaphyseal widening Pathologic fracture Vitreoretinopathy Barrel-shaped chest Glioma Vitreous hemorrhage Retinoblastoma Iris atrophy Phthisis bulbi Absent anterior chamber of the eye Recurrent fractures Behavioral abnormality Recurrent infections Hyperactivity Hyperkeratosis Irritability Hip dislocation Cerebellar vermis hypoplasia Carious teeth Decreased antibody level in blood Increased susceptibility to fractures Inability to walk Corneal neovascularization Blotching pigmentation of the skin Apnea Scarring Ectopia pupillae Open mouth Bradycardia Short chin Hand clenching Alacrima Limited hip extension Short stature Joint hypermobility Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Ventricular septal defect Intellectual disability, mild Osteoporosis Kyphoscoliosis Osteopenia Joint laxity Platyspondyly Enlarged flash visual evoked potentials


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