Strabismus, and Cerebral calcification

Diseases related with Strabismus and Cerebral calcification

In the following list you will find some of the most common rare diseases related to Strabismus and Cerebral calcification that can help you solving undiagnosed cases.


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Low match EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME


Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME Is also known as basal ganglion disorder with mental retardation|bgmr|waisman syndrome|parkinsonism, early-onset, with mental retardation|laxova-opitz syndrome|wsn

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME

Low match GRISCELLI SYNDROME TYPE 1


Griscelli syndrome type 1 (GS1) represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome (Menasche et al., 2002). Griscelli syndrome with immune impairment, or Griscelli syndrome type 2 (OMIM ), is caused by mutation in the RAB27A gene (OMIM ). Griscelli syndrome type 3 (OMIM ), characterized by hypomelanosis with no immunologic or neurologic manifestations, can be caused by mutation in the melanophilin (MLPH ) or MYO5A genes.Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. While most patients also develop hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation (Menasche et al., 2000), some show severe neurologic impairment early in life without apparent immune abnormalities. Bahadoran et al. (2003) characterized GS1 as comprising hypomelanosis and severe central nervous system dysfunction, corresponding to the 'dilute' phenotype in the mouse, and GS2 as comprising hypomelanosis and lymphohistiocytotic hemophagocytosis, corresponding to the 'ashen' phenotype in mouse.Anikster et al. (2002), Menasche et al. (2002), Huizing et al. (2002), and {3,2:Bahadoran et al. (2003, 2003)} suggested that Elejalde syndrome (OMIM ) in some patients and GS1 represent the same entity.

GRISCELLI SYNDROME TYPE 1 Is also known as partial albinism and primary neurologic disease without hemophagocytic syndrome|griscelli syndrome, cutaneous and neurologic type|griscelli-pruni√Čras syndrome type 1|hypopigmentation-neurologic impairment syndrome|griscelli syndrome with neurologic impair

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 1

Low match GORLIN SYNDROME


Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

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Low match X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME


X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Low match STURGE-WEBER SYNDROME


Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.

STURGE-WEBER SYNDROME Is also known as sws|sturge-weber-dimitri syndrome|sturge-weber-krabbe angiomatosis|encephalofacial angiomatosis|sturge-weber-krabbe syndrome|encephalotrigeminal angiomatosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Strabismus
  • Hyperreflexia
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about STURGE-WEBER SYNDROME

Low match AICARDI-GOUTIERES SYNDROME 1; AGS1


Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Low match MONOSOMY 9Q22.3


Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH METHYLMALONIC ACIDURIA


Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH METHYLMALONIC ACIDURIA Is also known as mtdna depletion syndrome, encephalomyopathic form with methylmalonic aciduria|mitochondrial encephalomyopathy-aminoacidopathy syndrome|booth-haworth-dilling syndrome|mitochondrial dna depletion syndrome, encephalomyopathic form, with or without methylmalo

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH METHYLMALONIC ACIDURIA

Low match COATS PLUS SYNDROME


Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts|coats plus syndrome|crmcc

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COATS PLUS SYNDROME

Low match MARSHALL SYNDROME


Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

Top 5 symptoms//phenotypes associated to Strabismus and Cerebral calcification

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Strabismus and Cerebral calcification. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of movement Glaucoma Hydrocephalus Cerebral cortical atrophy Generalized hypotonia Muscular hypotonia Macrocephaly Short stature Cataract Dystonia Retinopathy Nystagmus Ataxia Feeding difficulties Ventriculomegaly Frontal bossing Sensorineural hearing impairment Epicanthus Abnormality of extrapyramidal motor function

Rare Symptoms - Less than 30% cases


Plantar pits Retinal detachment Behavioral abnormality Blindness Genu valgum Dysphagia Hyperreflexia Optic atrophy Abnormality of the basal ganglia Sparse hair Basal ganglia calcification Flexion contracture Postnatal growth retardation Motor delay Arnold-Chiari malformation Cerebral atrophy Microcephaly Leukodystrophy Long philtrum Short nose Hearing impairment Kyphosis Low-set ears Growth delay Progressive encephalopathy Leukoencephalopathy Peripheral demyelination Abnormality of the skeletal system Abnormality of the cerebral white matter Visual impairment Iris coloboma Severe global developmental delay Irritability Feeding difficulties in infancy Thrombocytopenia Calcification of falx cerebri Palmar pits Morphological abnormality of the pyramidal tract Dysarthria Mandibular prognathia Choreoathetosis Hypertelorism Tremor Cryptorchidism Recurrent infections Brachycephaly Wide nasal bridge Dementia Neurological speech impairment Methylmalonic acidemia Decreased activity of mitochondrial respiratory chain Mental deterioration Methylmalonic aciduria Generalized dystonia Loss of ability to walk in early childhood Anemia Hypertension Intrauterine growth retardation Renal tubular dysfunction Osteoporosis Facial diplegia Osteopenia Arachnodactyly Nail dystrophy Abnormality of the liver Delayed speech and language development Abnormal pyramidal sign Small for gestational age Severe hearing impairment Cognitive impairment Cirrhosis Recurrent fractures Gastrointestinal hemorrhage Nail dysplasia Febrile seizures Hemiparesis Thin skin Telangiectasia Bone marrow hypocellularity Abnormality of visual evoked potentials External ophthalmoplegia Athetosis Acidosis Ovarian fibroma Thickened ears Odontogenic keratocysts of the jaw Cardiac fibroma Rigidity Failure to thrive Ptosis Peripheral neuropathy Skeletal muscle atrophy Cardiomyopathy Areflexia Hyporeflexia Elevated serum creatine phosphokinase Ophthalmoplegia Abnormal electroretinogram Lactic acidosis Inability to walk Polyneuropathy Aciduria Generalized-onset seizure Progressive neurologic deterioration Generalized hirsutism Aminoaciduria Intellectual disability, progressive Respiratory insufficiency due to muscle weakness Hemiplegia Delayed gross motor development Cachexia Decreased nerve conduction velocity Increased susceptibility to fractures Abnormality of the vasculature Portal hypertension Coxa valga Pierre-Robin sequence Aplasia cutis congenita Thickened calvaria Sparse eyebrow Ectopia lentis Sparse eyelashes Sparse and thin eyebrow Radial bowing Hypohidrosis Amblyopia Recurrent otitis media Osteoarthritis Sparse scalp hair Thick lower lip vermilion Vitreoretinopathy Hypoplasia of the zygomatic bone Otitis media Abnormal vitreous humor morphology Meningeal calcification Small proximal tibial epiphyses Wide tufts of distal phalanges Irregular distal femoral epiphysis Irregular proximal tibial epiphyses Macrodontia of permanent maxillary central incisor Hypoplastic frontal sinuses Thick upper lip vermilion Absent frontal sinuses Lens luxation Ulnar bowing Anhidrotic ectodermal dysplasia Concave nasal ridge Hypoplastic ilia High myopia Esotropia Short femoral neck Metaphyseal sclerosis Micrognathia Decreased pulmonary function Spastic hemiparesis Exudative retinopathy Retinal telangiectasia Retinal exudate Intestinal bleeding High palate Esophageal varix Oral leukoplakia Calcinosis Hematochezia Metopic synostosis Pathologic fracture Cleft palate Depressed nasal bridge Ectodermal dysplasia Arthralgia Bifid uvula Hypoplasia of the maxilla Flat face Congenital cataract Hypotrichosis Platyspondyly Proptosis Myopia Hyperhidrosis Depressivity Midface retrusion Malar flattening Abnormality of the dentition Anteverted nares Poor speech Basal cell carcinoma Rhabdomyosarcoma Hyperostosis Silver-gray hair Partial albinism Hemophagocytosis Abnormality of the eye Autistic behavior Attention deficit hyperactivity disorder Stroke Abnormality of eye movement White hair Gingival overgrowth Venous thrombosis Corneal dystrophy Iris hypopigmentation Abnormality of vision Pulmonary embolism Accumulation of melanosomes in melanocytes Abnormal choroid morphology Cerebellar atrophy Hyperlipidemia Fever Hepatomegaly Premature graying of hair Freckling Conjunctival telangiectasia Hearing abnormality Visceral angiomatosis Hemianopia Abnormality of the retinal vasculature Abnormality of the cerebral vasculature Heterochromia iridis Capillary hemangioma Generalized bronze hyperpigmentation High-frequency hearing impairment Splenomegaly Gait ataxia Hypogonadotrophic hypogonadism Hemivertebrae Melanocytic nevus Vertebral fusion Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Telecanthus Brachydactyly Neoplasm Intellectual disability, severe Inguinal hernia Cerebellar hypoplasia Prominent forehead High forehead Melanin pigment aggregation in hair shafts Neurodegeneration Aplasia/Hypoplasia of the cerebellum Self-injurious behavior Pointed chin Narrow face Dandy-Walker malformation Prominent nose Thick vermilion border Coarse facial features Long face Wide mouth Protruding ear Aggressive behavior Deeply set eye Difficulty walking Severe muscular hypotonia Diplopia Medulloblastoma Microphthalmia Lymphocytosis CSF pleocytosis Autoamputation Multiple gastric polyps CSF lymphocytic pleiocytosis Chilblains Chronic CSF lymphocytosis Deep white matter hypodensities Increased CSF interferon alpha Downslanted palpebral fissures Short neck Bradykinesia Parkinsonism Dyskinesia Pectus excavatum Slurred speech Tall stature Abnormality of the vertebral column Carious teeth Large for gestational age Nephroblastoma Trigonocephaly Accelerated skeletal maturation Abnormality of the ribs Hyperactivity Delayed eruption of teeth Oral cleft Joint hyperflexibility Umbilical hernia Narrow mouth Polydactyly Vegetative state Diffuse cerebral atrophy Dilatation Hypopigmentation of the skin Shuffling gait Brain atrophy Tetraplegia Cogwheel rigidity Hypertonia Skin rash Muscular hypotonia of the trunk Spastic tetraplegia Elevated hepatic transaminase Hepatosplenomegaly Agenesis of corpus callosum Pneumonia Encephalopathy Exotropia Hepatitis Intellectual disability, profound Acrocyanosis Spastic diplegia Resting tremor Episodic fever Atrophy/Degeneration affecting the brainstem Prolonged neonatal jaundice Congenital glaucoma Petechiae Systemic lupus erythematosus Postnatal microcephaly Encephalitis Poor head control Cerebral palsy Megalencephaly Lewy bodies Progressive microcephaly Small distal femoral epiphysis



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