Hyperreflexia, and Open mouth

Diseases related with Hyperreflexia and Open mouth

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Open mouth that can help you solving undiagnosed cases.

Top matches:

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

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6 Is also known as mdc1d|muscular dystrophy, congenital, large-related|muscular dystrophy, congenital, type 1d

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6

Other less relevant matches:

Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

Keppen-Lubinsky syndrome is a very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).

KEPPEN-LUBINSKY SYNDROME Is also known as generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about KEPPEN-LUBINSKY SYNDROME

Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Medium match MEHMO SYNDROME

MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

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

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Open mouth

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

Other less frequent symptoms

Patients with Hyperreflexia and Open mouth. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Absent speech

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly

Common Symptoms - More than 50% cases

Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability, severe

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Severe global developmental delay Hypertonia Hypoplasia of the corpus callosum Macrotia Abnormal facial shape Intellectual disability, profound Nystagmus Long face Short philtrum Cerebellar atrophy Babinski sign Motor delay Strabismus Narrow forehead Muscular hypotonia Cerebellar hypoplasia Neonatal hypotonia Encephalopathy Muscular hypotonia of the trunk Ataxia EEG abnormality Pes planus Myoclonus Tetraplegia Inability to walk Drooling Poor speech Spastic tetraplegia Feeding difficulties in infancy Autism Myopia Abnormality of eye movement Dystonia Clonus Delayed speech and language development Full cheeks Optic atrophy Pachygyria Progressive microcephaly Scoliosis Growth delay Short stature Tapered finger Malar flattening High palate

Rare Symptoms - Less than 30% cases

Micrognathia Tented upper lip vermilion Cerebral calcification Gingival overgrowth Spastic tetraparesis Skeletal muscle atrophy Hyperactivity Prominent nose Pectus excavatum Cerebral cortical atrophy Epileptic encephalopathy High, narrow palate Proptosis Abnormality of movement Gait ataxia Bowel incontinence Feeding difficulties Hallux valgus Upslanted palpebral fissure Widely spaced teeth Thick vermilion border Delayed puberty Aggressive behavior Cryptorchidism Atrophy/Degeneration affecting the brainstem Biparietal narrowing Gastroesophageal reflux Infantile muscular hypotonia Intellectual disability, progressive Frontal bossing Narrow face Involuntary movements Neuronal loss in central nervous system Urinary incontinence Abnormality of the foot Abnormality of the eye Hydrocephalus Arthrogryposis multiplex congenita Short nose Central hypotonia Edema Abnormality of the periventricular white matter Epicanthus Kyphoscoliosis Febrile seizures Waddling gait Paraplegia Spastic paraplegia Wide mouth Retrognathia Coarse facial features Talipes equinovarus Dysarthria Infantile encephalopathy Polymicrogyria Myopathic facies Brain atrophy Severe muscular hypotonia Sloping forehead Hypsarrhythmia Agitation Dental crowding Relative macrocephaly Downturned corners of mouth Poor suck Nasal speech Patent foramen ovale Thickened calvaria Lactic acidosis Broad nasal tip Ankylosis Small for gestational age Mild global developmental delay Right ventricular hypertrophy Slender build Left ventricular noncompaction Speech apraxia Perseveration Intention tremor Round face Abnormal cerebellum morphology Ventricular septal defect Depressed nasal tip Large earlobe Male hypogonadism Pancreatitis Abdominal obesity Birth length less than 3rd percentile Tall chin Macrocephaly Tremor Kyphosis External genital hypoplasia Lower limb spasticity Increased head circumference Patent ductus arteriosus Tetraparesis Hypoplasia of penis Growth hormone deficiency Narrow mouth Joint laxity Abnormal cardiac septum morphology Mild myopia Anteverted nares Deviated nasal septum CNS hypomyelination Protruding ear Joint stiffness Camptodactyly of finger Generalized muscle weakness Increased serum lactate Interphalangeal joint contracture of finger Choreoathetosis Leukodystrophy Bilateral single transverse palmar creases Muscle stiffness Type I diabetes mellitus Poor head control Athetosis Irritability Aphasia Generalized amyotrophy Hyperactive deep tendon reflexes Hypoplasia of the zygomatic bone Macroorchidism Abnormality of the neck Delayed CNS myelination Hypoplasia of the musculature Rotary nystagmus Increased thyroid-stimulating hormone level Prominent antihelix Abnormal conjugate eye movement Stahl ear Abnormality of the pinna Abnormality of the nervous system Cleft lip Progressive encephalopathy Blindness Cerebral atrophy Midface retrusion Visual loss Recurrent respiratory infections Limitation of joint mobility Abnormal palate morphology Infantile spasms Drowsiness Palpebral edema Epileptic spasms External ear malformation Edema of the lower limbs Hypothyroidism Developmental stagnation Periventricular leukomalacia Porencephalic cyst Peripheral edema Abnormality of upper lip Edema of the dorsum of hands Edema of the dorsum of feet Peripheral dysmyelination Undetectable visual evoked potentials Muscle weakness Ptosis Gait disturbance Hyporeflexia Attention deficit hyperactivity disorder Hypospadias Status epilepticus Self-mutilation Thin skin Lower limb muscle weakness Recurrent pneumonia Limb muscle weakness Abnormality of the cerebral white matter Increased susceptibility to fractures Lipodystrophy Mask-like facies Opisthotonus Narrow nasal bridge Shallow orbits Progeroid facial appearance Underdeveloped nasal alae Premature skin wrinkling Abnormally large globe Upper airway obstruction Dimple chin Narrow nasal ridge Narrow naris Prominent nasal tip Generalized lipodystrophy Absence of subcutaneous fat Congenital generalized lipodystrophy Loss of facial adipose tissue Tented philtrum Decreased testicular size Macroglossia Abnormality of the forehead Hypotelorism Decreased light- and dark-adapted electroretinogram amplitude Achilles tendon contracture Lower limb hyperreflexia Anxiety Abnormality of neuronal migration Skeletal muscle hypertrophy Everted lower lip vermilion Hypoplasia of the brainstem Dandy-Walker malformation Congenital muscular dystrophy Gowers sign Long eyelashes Joint contracture of the hand Holoprosencephaly Thick upper lip vermilion Fusion of the left and right thalami Abnormal electroretinogram EMG: myopathic abnormalities Failure to thrive Elbow flexion contracture Respiratory insufficiency Horizontal nystagmus Dyspnea Polyhydramnios Postnatal growth retardation Narrow nasal tip Muscular dystrophy Hypoglycemia Happy demeanor Hyperkinesis Adducted thumb Cachexia Abnormality of the thorax Aplasia/Hypoplasia of the cerebellum Decreased muscle mass Dysphasia Long nose Slender finger Dyslexia Abnormality of the nose Inappropriate laughter Wide nasal bridge Conspicuously happy disposition Photosensitive tonic-clonic seizures Loss of ability to walk in first decade Cleft palate Long philtrum Obesity Cerebellar cyst Hypogonadism Diabetes mellitus Micropenis Acidosis Difficulty walking Mutism Aplasia/Hypoplasia of the corpus callosum Pain Developmental regression Facial palsy Dysphagia Intellectual disability, mild Proximal muscle weakness Elevated serum creatine phosphokinase Everted upper lip vermilion Acetabular dysplasia Mandibular prognathia Excessive salivation Deeply set eye Facial hypotonia Genu recurvatum Truncal ataxia Ophthalmoplegia Narrow chest Protruding tongue Joint hyperflexibility Unsteady gait Thick eyebrow Sleep disturbance Bulbous nose Generalized-onset seizure Decreased body weight Postnatal microcephaly Stereotypy Underfolded superior helices


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