Delayed speech and language development, and Ischemic stroke

Diseases related with Delayed speech and language development and Ischemic stroke

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Ischemic stroke that can help you solving undiagnosed cases.


Top matches:

High match DYSTONIA 16; DYT16

Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

DYSTONIA 16; DYT16 Is also known as ;dyt16; early-onset dystonia parkinsonism

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Motor delay
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: MESH GARD MONDO DOID SCTID OMIM UMLS ORPHANET

More info about DYSTONIA 16; DYT16

Medium match WILLIAMS-BEUREN SYNDROME; WBS

Williams-Beuren syndrome is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes. Pober (2010) reviewed the clinical features of Williams-Beuren syndrome as well as the genomic and genetic basis and clinical management.See also the distal chromosome 7q11.23 deletion syndrome (OMIM ), which occurs between the WBS region and the MAGI2 gene (OMIM ).

WILLIAMS-BEUREN SYNDROME; WBS Is also known as chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb, williams syndrome;wms;ws;deletion 7q11.23; monosomy 7q11.23; williams-beuren syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MESH ORPHANET UMLS DOID OMIM SCTID NCIT MONDO GARD

More info about WILLIAMS-BEUREN SYNDROME; WBS

Medium match ISOVALERIC ACIDEMIA; IVA

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.

ISOVALERIC ACIDEMIA; IVA Is also known as isovaleric acid coa dehydrogenase deficiency, ivd deficiency;isovaleric acid coa dehydrogenase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Hepatomegaly
  • Edema


SOURCES: SCTID NCIT OMIM MESH MONDO ICD10 ORPHANET GARD DOID UMLS

More info about ISOVALERIC ACIDEMIA; IVA

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match SNEDDON SYNDROME

Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by Bras et al., 2014).Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987).

SNEDDON SYNDROME Is also known as livedo reticularis and cerebrovascular accidents;ehrmann-sneddon syndrome; livedo racemosa-cerebrovascular accident syndrome; livedo reticularis-cerebrovascular accident syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Seizures
  • Motor delay
  • Muscle weakness


SOURCES: ORPHANET MESH MONDO GARD DOID EFO SCTID OMIM

More info about SNEDDON SYNDROME

Medium match PORENCEPHALY 1; POREN1

Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

PORENCEPHALY 1; POREN1 Is also known as hemiplegia, infantile, with porencephaly porencephaly, type 1;t1p, porencephaly, type 1, autosomal dominant;adt1p;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus


SOURCES: ORPHANET UMLS MONDO OMIM

More info about PORENCEPHALY 1; POREN1

Medium match ADAMS-OLIVER SYNDROME 5; AOS5

Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Motor delay


SOURCES: UMLS MONDO OMIM

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Medium match PROPIONIC ACIDEMIA

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as propionyl-coa carboxylase deficiency, pcc deficiency, glycinemia, ketotic, hyperglycinemia with ketoacidosis and leukopenia, ketotic hyperglycinemia;ketotic hyperglycinemia; propionic aciduria; propionyl-coa carboxylase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: GARD MESH NCIT MONDO SCTID ORPHANET ICD10 OMIM DOID

More info about PROPIONIC ACIDEMIA

Medium match METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency, methylmalonic aciduria, mut type

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET OMIM

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY

Medium match MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria (summary by Mirzaa et al., 2012). This disorder is also known as the macrocephaly-capillary malformation (MCM) syndrome (Conway et al., 2007). Mirzaa et al. (2012) suggested use of the term MCAP rather than MCM to reflect the very large brain size, rather than simply large head size, that characterizes this syndrome, and the importance and high frequency of perisylvian polymicrogyria.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP Is also known as macrocephaly-capillary malformation;mcm, megalencephaly-capillary malformation syndrome, macrocephaly-cutis marmorata telangiectatica congenita;mcmtc, megalencephaly-cutis marmorata telangiectatica congenita;mcap; mcm; mcmtc; macrocephaly-capillary malformation syndrome; macrocephaly-cutis marmorata telangiectatica congenita syndrome; megalencephaly-capillary malformation syndrome; megalencephaly-cutis marmorata telangiectatica congenita syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM GARD SCTID MONDO

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP

Medium match ABETAL34V AMYLOIDOSIS

Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.

ABETAL34V AMYLOIDOSIS Is also known as abeta amyloidosis, piedmont type; abetal34v-related amyloidosis; hchwa, piedmont type; hereditary cerebral hemorrhage with amyloidosis, piedmont type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Coma
  • Behavioral abnormality
  • Dementia


SOURCES: ORPHANET

More info about ABETAL34V AMYLOIDOSIS

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Ischemic stroke

Symptoms // Phenotype % cases
Stroke Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Delayed speech and language development and Ischemic stroke. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Coma Dystonia Nevus Dehydration Autosomal dominant inheritance Failure to thrive Dysarthria Acidosis Cerebellar hemorrhage Hepatomegaly Generalized hypotonia Cutis marmorata Hernia Hemiparesis Muscular hypotonia Ethylmalonic aciduria Hyperglycinemia Methylmalonic aciduria Organic aciduria Vomiting Arrhythmia Thrombocytopenia Pancytopenia Aciduria Metabolic acidosis Hypertension Lethargy Behavioral abnormality Short stature Cerebral hemorrhage Tremor Hyperammonemia Motor delay Anemia Cognitive impairment Encephalopathy

Rare Symptoms - Less than 30% cases


Smooth philtrum Joint hyperflexibility Broad forehead Neurological speech impairment Developmental regression Attention deficit hyperactivity disorder Renal cyst Wide mouth Joint laxity Abnormality of the cerebral vasculature Tubulointerstitial nephritis Posterior embryotoxon Nausea and vomiting Vesicoureteral reflux Pulmonic stenosis Calcinosis Small nail Coarctation of aorta Ventricular hypertrophy Mitral valve prolapse Paralysis Cutis laxa Redundant skin Myocardial infarction Arnold-Chiari malformation Full cheeks Restlessness Postural instability Arnold-Chiari type I malformation Large earlobe Thick vermilion border Nevus flammeus Ketoacidosis Right ventricular hypertrophy Hemangioma Ventriculomegaly Hydrocephalus Polymicrogyria Acrania Tetraparesis Cortical dysplasia Syndactyly Cavernous hemangioma Facial paralysis Cutis marmorata telangiectatica congenita Cardiomyopathy Immunodeficiency Overgrowth Pancreatitis Ketonuria Optic atrophy Hemianopia Transient ischemic attack Arterial stenosis Muscle weakness Abnormality of nervous system morphology Tubulointerstitial abnormality Edema Leukopenia Umbilical hernia Hyperglycinuria Methylmalonic acidemia Milia Arteriovenous malformation Dementia Sporadic Nephropathy Migraine Hemiplegia Intracranial hemorrhage Visual field defect Feeding difficulties in infancy Cerebral ischemia Renal insufficiency Dysphonia Involuntary movements Constipation Hyperreflexia High forehead Abnormal heart morphology Strabismus Gait disturbance Pain Growth delay Diabetes mellitus Progressive Ataxia Hypertonia Abnormality of cardiovascular system morphology Osteoporosis Abnormal pyramidal sign Congestive heart failure Inguinal hernia Macrocephaly Myopathy Spasticity Ventricular septal defect Depressed nasal bridge Elevated serum creatine phosphokinase Epicanthus Tics Cataract Limb dystonia Cerebellar hypoplasia Morphological abnormality of the pyramidal tract Generalized dystonia Spontaneous abortion Cerebral calcification Akinesia Cerebellar atrophy Language impairment Babinski sign Dilatation Hemolytic anemia Postural tremor Hematuria Drooling Muscle cramps Perivascular spaces Proximal muscle weakness Hyperactivity Torticollis Splenomegaly Brachydactyly Antenatal intracerebral hemorrhage Schizencephaly Spastic hemiparesis Polar cataract Exotropia Pontocerebellar atrophy Primitive reflex Porencephalic cyst Hypoplasia of the iris Nuclear cataract Opisthotonus Dysphasia Leukoencephalopathy Cerebral palsy Inflammatory arteriopathy Proteinuria Thromboembolic stroke Abnormal facial shape Facial palsy Headache Micrognathia Erythema Sensorineural hearing impairment Ptosis Episodic ketoacidosis Cleft palate Abnormal myelination Cryptorchidism Autoimmunity Cerebral edema Flexion contracture Bone marrow hypocellularity Visual impairment Feeding difficulties Intrauterine growth retardation Wide nasal bridge Myopia Atrial septal defect Descending aorta hypoplasia Mental deterioration Chorea Lupus anticoagulant Lower limb pain Antiphospholipid antibody positivity Amaurosis fugax Vascular skin abnormality Laryngeal dystonia Facial grimacing Venous malformation Severe global developmental delay Peripheral arterial stenosis Craniofacial dystonia Atrophic scars Vertigo Aphasia Limb pain Retrocollis Pica Hearing impairment Microcephaly Systemic lupus erythematosus Vasculitis Memory impairment Scoliosis Ranula Parkinsonism Abnormality of the cerebral white matter Facial asymmetry Somatic mutation Cutaneous syndactyly Aplasia/Hypoplasia of the cerebellum Hand polydactyly Macule Telangiectasia Postaxial hand polydactyly Postaxial polydactyly Leukemia Joint hypermobility Toe syndactyly Telangiectasia of the skin Deeply set eye Finger syndactyly Abnormality of the nervous system Postnatal growth retardation Polydactyly Oxycephaly Microphthalmia Frontal bossing Downslanted palpebral fissures Neoplasm Nephroblastoma Hypermelanotic macule Metabolic ketoacidosis Visceral angiomatosis Paresthesia Vascular ring Hemimegalencephaly Progressive macrocephaly Facial hemangioma Capillary malformation Right aortic arch Cavum septum pellucidum Asymmetric growth Atrial flutter Hemihypertrophy Shock Dilation of lateral ventricles Varicose veins Meningioma Capillary hemangioma Severe failure to thrive Severe postnatal growth retardation Syringomyelia Foot polydactyly Megalencephaly Large for gestational age Hypertelorism Chronic metabolic acidosis Hepatic failure Aplasia cutis congenita of scalp Dysphagia Cerebral atrophy Right atrial enlargement Rigidity Chronic hepatic failure Portal vein thrombosis Calcinosis cutis Prominent scalp veins Hypersplenism Prominent superficial veins Esophageal varix Muscular hypotonia of the trunk Dystrophic toenail Progressive proximal muscle weakness Aplasia cutis congenita Abnormality of the coagulation cascade Spastic diplegia Atrophy/Degeneration involving the corticospinal tracts Bradykinesia Pulmonary arterial hypertension Hip dysplasia Ascites Recurrent infections Hypoglycemia Abnormal globus pallidus morphology Propionyl-CoA carboxylase deficiency Delayed CNS myelination Macrocytic anemia Spastic tetraparesis Paraparesis Choreoathetosis Stage 5 chronic kidney disease Respiratory distress Respiratory insufficiency Intolerance to protein Propionicacidemia Increased level of hippuric acid in urine Apnea Acute encephalopathy Episodic vomiting Limb hypertonia Poor appetite Ketosis Abnormality of immune system physiology Tachypnea Eczema Decreased antibody level in blood Neutropenia Lactic acidosis Vocal cord dysfunction Nystagmus-induced head nodding Stellate iris Gingival overgrowth Abnormality of dental enamel Hypogonadotrophic hypogonadism Nephrocalcinosis Increased bone mineral density Amblyopia Cardiomegaly Obesity Narrow face Recurrent urinary tract infections Aortic valve stenosis Recurrent respiratory infections Spina bifida occulta Nephritis Mitral regurgitation Nephrolithiasis Depressivity Abnormality of the cardiovascular system Hypsarrhythmia Recurrent otitis media Sudden cardiac death Open mouth Otitis media Abnormality of the fingernails Hemivertebrae Narrow forehead Abnormality of the voice Abnormality of dental morphology Vertebral segmentation defect Cholelithiasis Progressive hearing impairment Polycystic ovaries Midface retrusion Schizophrenia Precocious puberty Adducted thumb Hypercalciuria Clinodactyly of the 5th finger Pointed chin Radioulnar synostosis Hypercalcemia Abnormality of pelvic girdle bone morphology Delayed skeletal maturation Sacral dimple Reduced bone mineral density Bicuspid aortic valve Abnormal dermatoglyphics Hoarse voice Patent ductus arteriosus Abnormal form of the vertebral bodies Type II diabetes mellitus Increased body weight Autism Cleft lip Abnormal cardiac septum morphology Genu valgum Corneal opacity Abdominal pain Hypothyroidism Small for gestational age Irritability Osteopenia Gastroesophageal reflux Craniosynostosis Abnormality of the kidney Blepharophimosis Low-set, posteriorly rotated ears Hyperlordosis Anxiety Pes planus Hypertrophic cardiomyopathy Joint stiffness Protruding ear Kyphoscoliosis Arthralgia Autistic behavior Carious teeth Abnormality of extrapyramidal motor function Renal agenesis Cerebral cortical atrophy Oral cleft Microdontia Tetralogy of Fallot Hypotelorism Scarring Thick lower lip vermilion Hypoplasia of penis Renal hypoplasia Dental malocclusion Esotropia Malabsorption Broad nasal tip Micropenis Absent speech Macroglossia Glaucoma Sleep disturbance Hypodontia Dysmetria Everted lower lip vermilion Coarse facial features Macrotia Hypoplastic toenails Incoordination Thyroid hemiagenesis Colonic diverticula Abnormality of the bladder Retinal arteriolar tortuosity Aortic arch aneurysm Renal artery stenosis Hyperacusis Vascular tortuosity Synostosis of joints Renal duplication Abnormality of the ankles Retinal vascular tortuosity Aplasia/Hypoplasia of the iris Overriding aorta Abnormal glucose tolerance Increased nuchal translucency Death in early adulthood Thyroid hypoplasia Urethral stenosis Periorbital edema Phonophobia Parathyroid hyperplasia Rectal prolapse Dysgraphia Renovascular hypertension Abnormal endocardium morphology Peptic ulcer Abnormal carotid artery morphology Dyssynergia Functional abnormality of male internal genitalia Early onset of sexual maturation Bilateral vocal cord paralysis Intellectual disability, moderate Overfriendliness Medial flaring of the eyebrow Myxomatous mitral valve degeneration Elfin facies Paroxysmal bursts of laughter Coronary artery stenosis Pelvic kidney Abnormality of the diencephalon Impaired visuospatial constructive cognition Obsessive-compulsive trait Calcification of the aorta Unilateral renal hypoplasia Flat cornea Supravalvular aortic stenosis Nocturia Infantile hypercalcemia Abnormality of the gastric mucosa Abnormal social behavior Short nose Bladder diverticulum Chronic otitis media Hallux valgus Patellar dislocation Abnormality of lipid metabolism Pectus excavatum Soft skin Hypoplasia of the zygomatic bone High hypermetropia Megalocornea Prematurely aged appearance Abnormal renal morphology Abnormality of the vasculature Obsessive-compulsive behavior Pulmonary artery stenosis Facial cleft Polyuria Premature graying of hair Unilateral renal agenesis Infantile muscular hypotonia Open bite Glucose intolerance Failure to thrive in infancy Portal hypertension Tracheoesophageal fistula Multiple renal cysts Loss of consciousness Gait imbalance Villous atrophy Abnormality of refraction Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Poor coordination Cystic renal dysplasia Periorbital fullness Intellectual disability, mild Kyphosis Decreased plasma carnitine Lacrimation abnormality Insomnia Down-sloping shoulders Long philtrum Abnormality of the dentition Malar flattening Vocal cord paralysis Sudden death Dyslexia Enuresis Abnormality of the neck Chronic constipation Celiac disease Blue irides Sensory impairment



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Finger syndactyly, related diseases and genetic alterations Hyperreflexia and Dysarthria, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more