Delayed speech and language development, and Headache

Diseases related with Delayed speech and language development and Headache

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


Top matches:

Low 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

Low match EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

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


SOURCES: OMIM

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Low match EPISODIC ATAXIA TYPE 1

Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.

EPISODIC ATAXIA TYPE 1 Is also known as episodic ataxia with myokymia

Related symptoms:

  • Scoliosis
  • Motor delay
  • Delayed speech and language development
  • Dysarthria
  • Cerebellar atrophy


SOURCES: ORPHANET

More info about EPISODIC ATAXIA TYPE 1

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Other less relevant matches:

Low match MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

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


SOURCES: UMLS OMIM MONDO GARD

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

Low match GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1

GLUT1 deficiency syndrome-1 is a neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation. Hypoglycorrhachia (low CSF glucose, less than 40 mg/dl) and low CSF lactate are essentially diagnostic for the disorder. As more cases with GLUT1 deficiency syndrome were described, the phenotype was broadened to include individuals with ataxia and mental retardation but without seizures, individuals with dystonia and choreoathetosis, and rare individuals with absence seizures and no movement disorder. The disorder, which results from a defect in the GLUT1 glucose transporter causing decreased glucose concentration in the central nervous system, is part of a spectrum of neurologic phenotypes resulting from GLUT1 deficiency. GLUT deficiency syndrome-2 (OMIM ) represents the less severe end of the phenotypic spectrum and is associated with paroxysmal exercise-induced dystonia with or without seizures. Correct diagnosis of GLUT1 deficiency is important because a ketogenic diet often results in marked clinical improvement of the motor and seizure symptoms (reviews by Pascual et al., 2004 and Brockmann, 2009).

GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 Is also known as glucose transport defect, blood-brain barrier;de vivo disease; glucose transporter type 1 deficiency; glut-1 deficiency syndrome; glut1-ds

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM GARD MONDO UMLS

More info about GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1

Low match CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB

The deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene (OMIM ), is associated with a highly penetrant form of isolated severe early-onset obesity as well as obesity with developmental delay (summary by Bachmann-Gagescu et al., 2010).An extended 1.7-Mb deletion of chromosome 16p11.2 containing both the 220-kb region and the proximal 593-kb region associated autism (see {611913}) has been reported in 2 patients with a syndrome of autism, mental retardation, and obesity and in 2 patients with pervasive developmental disorder, auditory processing difficulties, and attention deficit-hyperactivity disorder but not obesity.For a phenotypic description and a discussion of genetic heterogeneity of body mass index (BMI), see {606641}.

CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB Is also known as ;distal del(16)(p11.2); distal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Kyphosis


SOURCES: OMIM DOID MONDO ORPHANET UMLS

More info about CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB

Low match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency;gsd due to phosphoglycerate kinase 1 deficiency; glycogenosis due to phosphoglycerate kinase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH GARD MONDO OMIM ORPHANET NCIT UMLS

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Low match FLOATING-HARBOR SYNDROME; FLHS

Floating-Harbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips (Lacombe et al., 1995).Rubinstein-Taybi syndrome (see {180849}), which shows phenotypic overlap with Floating-Harbor syndrome, is caused by mutation in the CREBBP gene (OMIM ), for which SRCAP is a coactivator.

FLOATING-HARBOR SYNDROME; FLHS Is also known as ;

Related symptoms:

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


SOURCES: MONDO SCTID MESH ORPHANET GARD UMLS OMIM

More info about FLOATING-HARBOR SYNDROME; FLHS

Low match ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2

Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012).For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (OMIM ).

Related symptoms:

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


SOURCES: MONDO UMLS OMIM

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2

Low match PORENCEPHALY 2; POREN2

Porencephaly is a neurologic disorder characterized by fluid-filled cysts or cavities in the brain and is thought to result from disturbed vascular supply leading to cerebral degeneration. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012).For a discussion of genetic heterogeneity of porencephaly, see POREN1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Strabismus
  • Spasticity


SOURCES: OMIM MONDO UMLS

More info about PORENCEPHALY 2; POREN2

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Autosomal dominant inheritance Common - Between 50% and 80% cases
Migraine Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Pica Ataxia Hemiparesis Intellectual disability, moderate Cognitive impairment Apraxia Generalized hypotonia Encephalopathy Focal seizures Choreoathetosis Microcephaly Hyperactivity Hemiplegia Status epilepticus Behavioral abnormality Strabismus Mental deterioration Autistic behavior

Rare Symptoms - Less than 30% cases


Specific learning disability Chorea Brachydactyly Vertigo Clumsiness Nausea Diplopia Muscle stiffness Blurred vision Short stature Tics Babinski sign Hearing impairment Nystagmus Intellectual disability, mild Vomiting Depressivity Abnormality of movement Retinal dystrophy Dystonia Confusion Hypertonia Constipation Loss of consciousness Rod-cone dystrophy Spasticity Hyperreflexia Prominent nasal bridge Muscle cramps Intellectual disability, severe Paresthesia Generalized seizures Tetraplegia Tetraparesis Sensory impairment Language impairment Generalized myoclonic seizures Dysphasia Aphasia Stroke Abnormal facial shape Milia Coma Attention deficit hyperactivity disorder Developmental regression Motor delay Epileptic encephalopathy Postnatal growth retardation Joint hyperflexibility Wide mouth Short philtrum Neurological speech impairment Deeply set eye Inguinal hernia Smooth philtrum Thin vermilion border Malabsorption Recurrent myoglobinuria Joint stiffness Bulbous nose Hypermetropia Downturned corners of mouth Triangular face Hypoplasia of the maxilla Increased muscle fatiguability Hirsutism Small hand Exercise-induced muscle cramps Thin upper lip vermilion Exercise-induced myoglobinuria Posteriorly rotated ears Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Atrial septal defect Gait disturbance Short neck Wide nasal bridge Intrauterine growth retardation Hypertension Neoplasm Delayed skeletal maturation Dilatation Upslanted palpebral fissure Clinodactyly Camptodactyly of finger Mandibular prognathia Arthritis Conductive hearing impairment Umbilical hernia Feeding difficulties in infancy Cryptorchidism Hydronephrosis Micrognathia Growth delay Hypospadias Telecanthus Joint laxity Broad nasal tip Proportionate short stature Underdeveloped nasal alae Generalized cerebral atrophy/hypoplasia Hyperextensibility of the finger joints Broad columella Short upper lip Stiff neck Spinal dysraphism Tethered cord Expressive language delay Congenital pseudoarthrosis of the clavicle Persistent left superior vena cava Varicocele Enlarged naris Epididymal cyst Abnormal soft palate morphology Enlarged joints Congenital posterior urethral valve Mesocardia Rigidity Anxiety Abnormality of the eye Abnormality of eye movement Parkinsonism Athetosis Episodic quadriplegia Ventriculomegaly Spastic tetraplegia Intracranial hemorrhage Porencephalic cyst Auricular pit Villous atrophy Prominent nose Abnormality of the hand Hypoplasia of penis Low posterior hairline Short palpebral fissure Otitis media Broad thumb Coarctation of aorta Recurrent otitis media Short thumb Generalized hirsutism Long eyelashes Nephrocalcinosis Abnormality of the fingernails Nasal speech Abnormality of the voice Short columella Finger clinodactyly Trigonocephaly Preauricular pit Lipoma High pitched voice Myoglobinuria Sprengel anomaly Abnormality of the clavicle Short clavicles Glioma Cone-shaped epiphyses of the phalanges of the hand Celiac disease Enuresis Decreased mean corpuscular volume Vesicoureteral reflux Progressive encephalopathy Scotoma Edema Fever Tremor Blindness Heterogeneous Gait ataxia Photophobia Dysmetria Abnormal cerebellum morphology Intention tremor Tinnitus Severe hearing impairment Tip-toe gait Restlessness Drowsiness Episodic ataxia Borderline personality disorder Migraine with aura Phonophobia Personality disorder Migraine without aura Scintillating scotoma Transient unilateral blurring of vision Autosomal recessive inheritance Infantile onset Craniofacial disproportion Hand clenching Myoclonus Perisylvian polymicrogyria Dementia Cerebral hemorrhage Abnormality of the cerebral vasculature Autism Polymicrogyria Febrile seizures Urinary incontinence Progressive cerebellar ataxia Dysdiadochokinesis Epileptic spasms Speech apraxia Agnosia Poor coordination Oromotor apraxia EEG with centrotemporal focal spike waves Continuous spike and waves during slow sleep Scoliosis Cerebellar atrophy Respiratory distress Hyperhidrosis Kyphoscoliosis Postural instability Calf muscle hypertrophy Myotonia Myokymia Abnormality of metabolism/homeostasis EEG abnormality Rhabdomyolysis Cerebral cortical atrophy Hyperuricemia Chronic constipation Oval face Moderate receptive language delay Myopathy Anemia Nevus Splenomegaly Renal insufficiency Fatigue X-linked recessive inheritance Visual loss Low anterior hairline Jaundice Hepatosplenomegaly Myalgia Muscular dystrophy Hemolytic anemia Spastic tetraparesis Hyperbilirubinemia Purpura Exercise intolerance Emotional lability Reticulocytosis Acute kidney injury Chronic kidney disease Aganglionic megacolon Muscular hypotonia of the trunk Paroxysmal dystonia Lethargy Sleep disturbance Dyskinesia Paralysis Postnatal microcephaly Cyanosis Progressive microcephaly Absence seizures Focal seizures with impairment of consciousness or awareness Atonic seizures Central apnea Paroxysmal dyskinesia Abnormal erythrocyte morphology Renal agenesis Extrapyramidal dyskinesia Generalized hyperreflexia Hypoglycorrhachia Paroxysmal involuntary eye movements Paroxysmal lethargy Kyphosis Obesity Narrow mouth Proteinuria Neonatal hypotonia Abnormality of the kidney Arachnodactyly Intraventricular hemorrhage



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