Muscle weakness, and Microcornea

Diseases related with Muscle weakness and Microcornea

In the following list you will find some of the most common rare diseases related to Muscle weakness and Microcornea that can help you solving undiagnosed cases.

Top matches:

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Other less relevant matches:

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. The combination of the 3 findings was earlier referred to as 'acro-renal-ocular syndrome.' The ocular anomalies usually include Duane anomaly (see {126800}), but this finding may be absent in some patients (Kohlhase et al., 2003). Similarly, renal anomalies are not always seen and may not have been investigated, particularly in cases reported before routine renal imaging (Aalfs et al., 1996). Other less common features include sensorineural deafness and gastrointestinal anomalies, such as imperforate anus.The Holt-Oram syndrome (OMIM ), caused by mutation in the TBX5 gene (OMIM ) on chromosome 12q24, shows similar anomalies of the upper limb, but can be differentiated from Duane-radial ray syndrome by the absence of ocular and renal anomalies and the presence of severe congenital heart defects (Kohlhase, 2003).

DUANE-RADIAL RAY SYNDROME; DRRS Is also known as dr syndrome|acrorenoocular syndrome|duane anomaly with radial ray abnormalities and deafness|okihiro syndrome

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about DUANE-RADIAL RAY SYNDROME; DRRS

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). Genetic Heterogeneity of Warburg Micro SyndromeWarburg Micro syndrome-2 (WARBM2 ) is caused by mutation in the RAB3GAP2 gene (OMIM ) on chromosome 1q41. WARBM3 (OMIM ) is caused by mutation in the RAB18 gene (OMIM ) on chromosome 10p12. WARBM4 (OMIM ) is caused by mutation in the TBC1D20 gene (OMIM ) on chromosome 20p13.See also Martsolf syndrome (OMIM ), a clinically overlapping but milder autosomal recessive disorder caused by autosomal recessive mutation in the RAB3GAP2 gene.Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap.

WARBURG MICRO SYNDROME 1; WARBM1 Is also known as micro syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 1; WARBM1

SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Top 5 symptoms//phenotypes associated to Muscle weakness and Microcornea

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Muscle weakness and Microcornea. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Generalized hypotonia Scoliosis Abnormal facial shape Microphthalmia Congenital cataract Kyphoscoliosis Myopia Epicanthus Flexion contracture Micrognathia Growth delay Ptosis Skeletal muscle atrophy Muscular hypotonia Talipes equinovarus Myopathy Optic atrophy Pes planus Seizures Elevated serum creatine phosphokinase Nystagmus Abnormality of the skeletal system Glaucoma Cerebellar hypoplasia Intellectual disability, severe Severe short stature Inguinal hernia Motor delay Umbilical hernia Specific learning disability Corneal opacity Congenital muscular dystrophy Hyporeflexia Kyphosis Cerebral cortical atrophy Hypogonadism Dilatation Cerebral atrophy Hypertelorism Muscular dystrophy Abnormality of the dentition High palate Cerebellar atrophy Failure to thrive Coloboma Anal atresia Osteoporosis Ventriculomegaly Hypertrichosis

Rare Symptoms - Less than 30% cases

Narrow mouth Pachygyria Tetraplegia Decreased testicular size Retinopathy Coxa valga Retinal detachment Abnormality of the cerebral white matter Iris coloboma Facial palsy Intellectual disability, mild Dysarthria Spasticity Hypertonia Dysphonia Retrognathia Polymicrogyria Areflexia Upslanted palpebral fissure Respiratory distress Hypoglycemia Cryptorchidism Blepharophimosis Muscle flaccidity Low-set ears External genital hypoplasia Intrauterine growth retardation Sandal gap Hypoplasia of the corpus callosum Smooth philtrum Congenital glaucoma Progressive muscle weakness Malignant hyperthermia Agenesis of corpus callosum Short palpebral fissure Posteriorly rotated ears Proptosis Abnormality of the optic nerve Hydronephrosis Deeply set eye Brachycephaly Rigidity Pectus carinatum Hypergonadotropic hypogonadism Visual impairment Abnormal aldolase level Short philtrum Sensorineural hearing impairment Severe muscular hypotonia Aplasia/Hypoplasia involving the skeletal musculature Telecanthus Cardiomyopathy Abnormal levels of creatine kinase in blood Anal stenosis Retinal coloboma Choanal atresia Abnormality of the cerebellar vermis Microdontia Metatarsus valgus Osteopenia Joint hypermobility Polycoria Rieger anomaly Anterior synechiae of the anterior chamber Mandibular prognathia Wide nasal bridge Fever Bladder diverticulum Peripheral neuropathy Megalocornea Ataxia Hydrocephalus Posterior embryotoxon Blindness Myotonia Hernia Hypoplasia of the iris Short thumb Hyperextensible skin Abnormal lactate dehydrogenase activity Fused cervical vertebrae Absent radius Choanal stenosis Short humerus Decreased motor nerve conduction velocity Preaxial hand polydactyly Axonal degeneration Decreased serum estradiol Upper limb postural tremor Malar prominence Recurrent myoglobinuria Abnormality of the urinary system Abnormality of the cervical spine Motor polyneuropathy Preaxial polydactyly Abnormality of peripheral nerve conduction Motor axonal neuropathy Absent thumb Genu recurvatum Triphalangeal thumb Myoglobinuria Axonal loss Hypoplasia of the ulna Rhabdomyolysis Ectopic kidney Secondary amenorrhea Abnormality of the nasopharynx Pes cavus Small thenar eminence Impaired convergence Impaired ocular adduction Impaired ocular abduction Small hand Paresthesia Dysmetria Abnormal pyramidal sign Camptodactyly of finger Palpebral fissure narrowing on adduction Sensory neuropathy Myalgia Pectoralis hypoplasia Slit-like opening of the exterior auditory meatus Proximal muscle weakness Upper limb muscle hypoplasia Cognitive impairment Tremor Unilateral deafness Radial deviation of the hand Postural tremor Long eyelashes CNS hypomyelination Duane anomaly Babinski sign Optic disc hypoplasia Crossed fused renal ectopia Hypogonadotrophic hypogonadism Hemifacial hypoplasia Split hand Polyneuropathy Renal malrotation Primary amenorrhea Aplasia of metacarpal bones Intention tremor Interphalangeal joint contracture of finger Amenorrhea Peripheral demyelination Chorea Acute rhabdomyolysis Posterior uveitis Peripheral hypomyelination Temperature instability Brachydactyly Anterior bowing of long bones Long eyelashes in irregular rows Abnormality of femoral epiphysis Smooth tongue Generalized muscle hypertrophy Shoulder flexion contracture Pursed lips Percussion myotonia Talipes valgus Flexion contracture of toe Gait ataxia Spinal deformities Weak voice Wrist flexion contracture Hypoplasia of the musculature Coronal cleft vertebrae Constrictive median neuropathy Blepharospasm Hip contracture High pitched voice Skeletal muscle hypertrophy Overfolded helix Recurrent infections Intellectual disability, moderate Sleep apnea Infantile muscular hypotonia Muscle fiber necrosis Autophagic vacuoles Avascular necrosis of the capital femoral epiphysis Mild global developmental delay Abnormality of finger Centrally nucleated skeletal muscle fibers Rimmed vacuoles Myopathic facies Cubitus valgus Short metatarsal Abnormality of the metacarpal bones Type I diabetes mellitus Neurological speech impairment Muscle stiffness Sensorimotor neuropathy Limb ataxia Hip dysplasia Decreased antibody level in blood Short metacarpal Progressive cerebellar ataxia Dyskinesia Short palm Synophrys Hip dislocation Metaphyseal widening Narrow palpebral fissure Hyperreflexia Cerebral visual impairment Anteverted ears Abnormal pupil morphology Enlarged cisterna magna Cortical dysplasia Neurodevelopmental delay Spastic diplegia Overlapping toe Bilateral cryptorchidism Cerebral palsy Spastic tetraparesis Postnatal microcephaly Posterior synechiae of the anterior chamber Tetraparesis Convex nasal ridge Delayed myelination Brain atrophy Arthrogryposis multiplex congenita Severe global developmental delay Muscular hypotonia of the trunk Neonatal hypotonia Macrotia Micropenis Long philtrum Hyperglycinuria Facial hypertrichosis Coxa vara Talipes Generalized hirsutism EMG abnormality Congenital hip dislocation Abnormal autonomic nervous system physiology Elbow flexion contracture Joint contracture of the hand Bowing of the long bones Lumbar hyperlordosis Full cheeks Recurrent fractures Flat face Platyspondyly Microphakia Camptodactyly Apnea Skeletal dysplasia Hyperhidrosis Delayed skeletal maturation Midface retrusion Malar flattening Short neck Dysphagia Hypertension Pain Hypoplasia of the radius Renal dysplasia Abnormal dermatoglyphics Paraparesis Increased intraocular pressure Infantile spasms Scotoma Blurred vision Cerebral hemorrhage Hemiplegia Intracranial hemorrhage Leukoencephalopathy Spastic paraparesis Amblyopia Supraventricular tachycardia Hemiparesis Spastic tetraplegia Migraine Muscle cramps Renal cyst Hypopigmentation of the skin Nephropathy Hematuria Tachycardia Astigmatism Ectopia pupillae Corneal neovascularization Stroke Right hemiplegia Wide mouth Coarse facial features Dyspnea Respiratory failure Feeding difficulties Neoplasm Thalamic hemorrhage Posterior leukoencephalopathy Retinal arterial tortuosity Peripapillary atrophy Anterior segment developmental abnormality Retinal arteriolar tortuosity Optic neuritis Diffuse leukoencephalopathy Perivascular spaces Arterial tortuosity Neuritis Retinal hemorrhage Migraine with aura Porencephalic cyst Hypopigmentation of the fundus Hypermetropia Abnormality of the nervous system Arachnodactyly Slurred speech Patent ductus arteriosus Gait disturbance Abnormally prominent line of Schwalbe Axenfeld anomaly Bilateral choanal atresia Abnormality of the abdominal wall Aniridia Abnormality of dental morphology Prominent supraorbital ridges Reduced number of teeth Scarring Hypoplasia of dental enamel Growth hormone deficiency Hypoplasia of the maxilla Hypodontia Everted lower lip vermilion Confusion Conductive hearing impairment Thin upper lip vermilion Visual loss Hypospadias Hyperkeratosis Abnormality of the foot Dementia Atrophic scars Depressivity Headache Aortic rupture Abnormal eye morphology Arterial rupture High-frequency sensorineural hearing impairment Keloids Cleft soft palate Follicular hyperkeratosis Soft skin Difficulty climbing stairs Bruising susceptibility Disproportionate tall stature Increased susceptibility to fractures Poor suck Easy fatigability Poor head control Cutis laxa Blue sclerae Hypotelorism Sloping forehead Waddling gait Small for gestational age Dry skin Spina bifida occulta Retinal dysplasia Agyria Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Muscle fiber splitting Peters anomaly Aqueductal stenosis Buphthalmos Abnormal cortical gyration Bilateral cleft lip Remnants of the hyaloid vascular system Retinal atrophy Submucous cleft hard palate Occipital encephalocele Absent septum pellucidum Abnormality of neuronal migration Hypoplasia of the brainstem Anophthalmia Congenital contracture Atresia of the external auditory canal Optic nerve hypoplasia Excessive daytime sleepiness Posterior fossa cyst Heterotopia Polydactyly Horseshoe kidney Aganglionic megacolon Renal hypoplasia Bilateral sensorineural hearing impairment Renal agenesis Intestinal malrotation Vesicoureteral reflux Facial asymmetry Abnormality of the kidney Diabetes mellitus Meningoencephalocele Abnormal heart morphology Syndactyly Atrial septal defect Ventricular septal defect Thick cerebral cortex Hypoplastic male external genitalia Chorioretinal dysplasia Macrogyria Severe hydrocephalus Hypoglycosylation of alpha-dystroglycan Lissencephaly Encephalocele Long face Precocious puberty Ketoacidosis Insulin-resistant diabetes mellitus Protuberant abdomen Ovarian neoplasm Flat occiput Absent eyebrow Hyperglycemia Clitoral hypertrophy Lipodystrophy Hyperinsulinemia Thick nail Acanthosis nigricans Narrow face Preauricular skin tag Insulin resistance Epidermal acanthosis Sepsis Abdominal distention High, narrow palate Hirsutism Thin vermilion border Long foot Fasting hypoglycemia Cerebellar vermis hypoplasia Frontal bossing Intellectual disability, profound Hypoplasia of penis Dandy-Walker malformation Bifid uvula Retinal dystrophy Oral cleft Cleft upper lip Microtia Protruding ear Cleft lip Macrocephaly Long penis Cleft palate Onychauxis Abnormality of upper lip Postprandial hyperglycemia Chorioretinal dystrophy Diabetic ketoacidosis Abnormal lip morphology Choroideremia Thin eyebrow Advanced eruption of teeth Cerebellar cortical atrophy


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