Edema, and Absent speech

Diseases related with Edema and Absent speech

In the following list you will find some of the most common rare diseases related to Edema and Absent speech that can help you solving undiagnosed cases.

Top matches:

SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

Medium match PEHO-LIKE SYNDROME

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION

Other less relevant matches:

Hypomyelinating leukodystrophy-14 is an autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures; many patients also have perceptive hearing loss and/or blindness. Most patients require tube feeding or ventilatory support, and most die in the first years of life. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy (summary by Hamilton et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 14; HLD14

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

Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013). Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic FaciesSee also IHPRF2 (OMIM ), caused by mutation in the UNC80 gene (OMIM ) on chromosome 2q34; and IHPRF3 (OMIM ), caused by mutation in the TBCK gene (OMIM ) on chromosome 4q24.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 Is also known as ihprf

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1

ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

Medium match PEHO SYNDROME

PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.

PEHO SYNDROME Is also known as progressive encephalopathy-optic atrophy syndrome|progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|infantile cerebellooptic atrophy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO SYNDROME

HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; review by Zschocke, 2012).In a review of the disorder, Zschocke (2012) noted that although this disorder was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS below).

HSD10 MITOCHONDRIAL DISEASE; HSD10MD Is also known as hsd17b10 deficiency|mhbd deficiency|2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency|camr|mental retardation with chorioathetosis and abnormal behavior|mental retardation, x-linked, syndromic 10|17-beta-hydroxysteroid dehydrogenase x deficiency|chor

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HSD10 MITOCHONDRIAL DISEASE; HSD10MD

Medium match DPM1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

Top 5 symptoms//phenotypes associated to Edema and Absent speech

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Edema and Absent speech. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Optic atrophy

Common Symptoms - More than 50% cases

Cerebellar atrophy

Uncommon Symptoms - Between 30% and 50% cases

Short nose Hypoplasia of the corpus callosum Cerebellar hypoplasia Nystagmus Abnormal facial shape Feeding difficulties Encephalopathy Myoclonus Ventriculomegaly Cerebral atrophy Micrognathia Flexion contracture Hyperreflexia Low-set ears Anteverted nares Narrow forehead Progressive microcephaly Spastic tetraplegia Full cheeks Abnormality of eye movement Hypsarrhythmia Developmental regression Open mouth Muscular hypotonia Hypertelorism Severe global developmental delay Progressive neurologic deterioration Intellectual disability, severe Dystonia Growth delay Blindness Ataxia Prominent forehead Cerebral visual impairment Retrognathia Neonatal hypotonia Failure to thrive Spasticity Epicanthus Palpebral edema

Rare Symptoms - Less than 30% cases

Smooth philtrum Hydrocephalus Respiratory distress Abnormal pyramidal sign Tremor Camptodactyly Tetraparesis Spastic tetraparesis Hearing impairment Overlapping toe CNS hypomyelination Infantile muscular hypotonia Neurodegeneration Peripheral edema Tented upper lip vermilion Myopathy Arthrogryposis multiplex congenita Developmental stagnation Cataract Delayed myelination Abnormality of the cerebral white matter Visual loss Cerebral cortical atrophy Retinal degeneration EEG abnormality Depressed nasal bridge Abnormality of the eye Abnormality of movement Gait ataxia Esotropia Macrotia Brain atrophy Upslanted palpebral fissure Intellectual disability, profound Tapered finger Posteriorly rotated ears Polymicrogyria Hypertonia Pachygyria Severe muscular hypotonia Motor delay Infantile encephalopathy Aplasia/Hypoplasia of the corpus callosum Sloping forehead Visual impairment Respiratory insufficiency High palate Poor speech Broad forehead Apnea Hypertrophic cardiomyopathy Acidosis Drooling Dysphagia Cardiomyopathy Agenesis of corpus callosum Intellectual disability, mild Horizontal nystagmus Hypoglycemia Neurological speech impairment Hallucinations Choreoathetosis Rigidity Aggressive behavior Dehydration Aciduria Chorea Tetraplegia Metabolic acidosis Lactic acidosis Dolichocephaly Undetectable visual evoked potentials Dysarthria Drowsiness Sparse hair Protruding ear Feeding difficulties in infancy Low-set, posteriorly rotated ears Limitation of joint mobility Neuronal loss in central nervous system Gingival overgrowth Abnormal palate morphology Infantile spasms Biparietal narrowing Atrophy/Degeneration affecting the brainstem Epileptic spasms Delayed speech and language development External ear malformation Progressive encephalopathy Edema of the lower limbs Periventricular leukomalacia Porencephalic cyst Abnormality of upper lip Edema of the dorsum of hands Edema of the dorsum of feet Peripheral dysmyelination Athetosis Sensorineural hearing impairment Cognitive impairment Abnormality of mitochondrial metabolism Persistent lactic acidosis Agitation Lower limb hyperreflexia Decreased liver function Truncal ataxia Knee flexion contracture Venous thrombosis Hemangioma Abnormality of vision Poor suck Trigonocephaly Flat occiput Increased variability in muscle fiber diameter Weak cry Postnatal microcephaly Ankle contracture Upper limb undergrowth Deep venous thrombosis Prolonged partial thromboplastin time Abnormal myelination Type I transferrin isoform profile Pontocerebellar atrophy Hypoglycosylation of alpha-dystroglycan Abnormal macular morphology Reduced antithrombin III activity Reduced protein C activity Telangiectasia Intention tremor Restlessness Recurrent infections Mitochondrial myopathy Diffuse cerebral atrophy Gastrointestinal dysmotility Loss of ability to walk Abnormal mitochondrial morphology Thick eyebrow Progressive choreoathetosis Hypertension Hepatomegaly Downslanted palpebral fissures Splenomegaly Patent ductus arteriosus Febrile seizures Elevated serum creatine phosphokinase Elevated hepatic transaminase Retinopathy Prominent nasal bridge Muscular dystrophy Dysmetria Short palm High, narrow palate Small hand Dental malocclusion Nail dysplasia Recurrent respiratory infections Hypoplasia of the brainstem Midface retrusion Increased serum ferritin Corneal opacity Retinal dystrophy High myopia Kyphoscoliosis Amblyopia Aspiration Opacification of the corneal stroma Iron deficiency anemia Severe vision loss Abnormality of abdomen morphology Motor deterioration Photophobia Decreased light- and dark-adapted electroretinogram amplitude Titubation Esodeviation Cerebral dysmyelination Dysplastic corpus callosum Hoarse cry Progressive psychomotor deterioration Oligosacchariduria Abnormality of mucopolysaccharide metabolism Truncal titubation Abnormality of ganglioside metabolism Abnormality of the nervous system Hepatosplenomegaly Upper eyelid edema Myopathic facies Unsteady gait Epileptic encephalopathy Broad-based gait Cafe-au-lait spot Telecanthus Anxiety Deep philtrum Precocious puberty Bilateral ptosis High forehead Neurodevelopmental delay Coarse facial features Facial hypotonia Ptosis Abdominal distention Leukodystrophy Central hypotonia Status epilepticus Anemia Myopia Babinski sign Reduced visual acuity Skeletal dysplasia Scoliosis Cryptorchidism Malar flattening Lissencephaly Everted lower lip vermilion Hirsutism Hypermetropia Abnormality of the foot Webbed neck Dandy-Walker malformation Hypotelorism Apraxia Heterotopia Oculomotor apraxia Plagiocephaly Clinodactyly Cutaneous syndactyly Scrotal hypoplasia Adducted thumb Pleural effusion Facial asymmetry Pericardial effusion Cystic hygroma Overlapping fingers Cerebellar dysplasia Hand clenching Kinked brainstem Micropenis Behavioral abnormality Nonprogressive cerebellar ataxia Pectus carinatum Skeletal muscle atrophy Constipation Brachycephaly Hyperactivity Gastroesophageal reflux Congenital microcephaly Thin upper lip vermilion Muscular hypotonia of the trunk Postnatal growth retardation Wide mouth Limb hypertonia Partial agenesis of the corpus callosum Highly arched eyebrow Triangular face Low anterior hairline Long eyelashes Thick lower lip vermilion Decreased motor nerve conduction velocity Poor eye contact Slender nose Cerebellar vermis hypoplasia Macrocephaly Talipes equinovarus Abnormal cerebellum morphology Reduced protein S activity


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