Hyperreflexia, and Bifid uvula

Diseases related with Hyperreflexia and Bifid uvula

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

Top matches:

Medium match ALG3-CDG

ALG3-CDG is a form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC, see this term), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). ALG3-CDG is caused by loss of function mutations of the gene ALG3 (3q27.3).

ALG3-CDG Is also known as cdgid|cdg id|cdgs, type iv, formerly|cdgs4, formerly|carbohydrate-deficient glycoprotein syndrome, type iv, formerly|congenital disorder of glycosylation type id|congenital disorder of glycosylation type 1d|cdg syndrome type id|cdg-id|mannosyltransferase

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALG3-CDG

Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014).For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Flexion contracture
  • High palate
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 5; CNM5

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Other less relevant matches:

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE Is also known as eds, spondylocheirodysplastic type|spondylocheirodysplasia, ehlers-danlos syndrome-like|scd-eds

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • High palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE

Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip|pit|lps|lip-pit syndrome|vdws

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about VAN DER WOUDE SYNDROME 1; VWS1

Top 5 symptoms//phenotypes associated to Hyperreflexia and Bifid uvula

Symptoms // Phenotype % cases
Flexion contracture Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Bifid uvula. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Motor delay Seizures Areflexia Hypertelorism Narrow mouth Micrognathia Myopathy Cryptorchidism Intellectual disability Scoliosis Feeding difficulties Joint contracture of the hand Retrognathia Hypoplasia of the corpus callosum Global developmental delay Short stature Talipes equinovarus Ptosis Epicanthus Low-set ears Muscular hypotonia Skeletal muscle atrophy Failure to thrive Microcephaly Neonatal hypotonia Muscle weakness Hyporeflexia Agenesis of corpus callosum Protruding ear Specific learning disability Proptosis Arachnodactyly Depressed nasal bridge Arthrogryposis multiplex congenita Intellectual disability, severe Abnormality of the pinna Pectus excavatum Congenital contracture

Rare Symptoms - Less than 30% cases

Long philtrum Intrauterine growth retardation Submucous cleft hard palate Scapular winging Posteriorly rotated ears Hypodontia Finger syndactyly Blepharophimosis Ventriculomegaly Hydrocephalus Deeply set eye Microphthalmia Dilatation Hydronephrosis Muscular dystrophy Absent septum pellucidum Renal dysplasia Waddling gait Long face Thin upper lip vermilion Blue sclerae Difficulty walking Neurological speech impairment Kyphosis Camptodactyly of finger Cleft lip Delayed speech and language development Short palpebral fissure Joint stiffness Oral cleft Cleft upper lip Postnatal growth retardation Hypoplasia of the brainstem Dandy-Walker malformation Syndactyly Cerebellar hypoplasia Respiratory distress Coloboma Respiratory insufficiency Abnormality of the cerebellar vermis Abnormality of the sternum Aplasia/Hypoplasia involving the skeletal musculature Decreased muscle mass Downslanted palpebral fissures Ventricular septal defect Iris coloboma Inguinal hernia Kyphoscoliosis Elevated serum creatine phosphokinase Muscular hypotonia of the trunk Pes planus Absent speech Pectus carinatum Small for gestational age Smooth philtrum Blindness Optic atrophy Bruising susceptibility Strabismus Cardiomyopathy Long fingers Facial palsy Ophthalmoplegia Axial muscle weakness Hip contracture Severe muscular hypotonia Centrally nucleated skeletal muscle fibers Respiratory tract infection Increased arm span Aortic dissection Abnormality of the kidney Abnormality of the face Wide anterior fontanel Situs inversus totalis Anteverted nares Multicystic kidney dysplasia Renal hypoplasia/aplasia Abnormality of the urinary system Atrioventricular block Cervical spine instability Abnormal form of the vertebral bodies Broad face Aortic regurgitation Bilateral coxa valga Exotropia Pyloric stenosis Arterial dissection Spondylolisthesis Ascending aortic dissection Tall stature Mitral regurgitation Cleft soft palate Short neck Patent foramen ovale Polyhydramnios Reduced subcutaneous adipose tissue Hiatus hernia Soft skin Aortic root aneurysm Long palpebral fissure Celiac disease Micropenis Attention deficit hyperactivity disorder Hyperactivity Talipes Graves disease Pulmonary hypoplasia Renal hypoplasia Severe short stature Hypospadias Abnormality of cardiovascular system morphology High, narrow palate Cerebral hemorrhage Renal agenesis Ectopia lentis Peripheral demyelination Camptodactyly Aggressive behavior Interphalangeal joint contracture of finger Arterial tortuosity Telecanthus Radioulnar synostosis Broad femoral neck Toe syndactyly Absent palmar crease Cigarette-paper scars Moderately short stature Thenar muscle atrophy Flattened epiphysis Flat capital femoral epiphysis Prominent superficial veins Otitis media Irregular vertebral endplates Short femoral neck Metaphyseal widening Hyperextensible skin Short phalanx of finger Abnormality of the metaphysis Thin skin Short metacarpal Falls Ambiguous genitalia Delayed eruption of teeth Non-midline cleft lip Lower lip pit Fibrous syngnathia Lip pit Nonketotic hyperglycinemia Popliteal pterygium Ankyloblepharon Ankyloglossia Hypoplastic labia majora Bifid scrotum Abnormality of the ribs Pterygium Scrotal hypoplasia Cerebral palsy Generalized hirsutism Abnormality of the nail Abnormality of the genital system Choanal atresia Split hand Dental malocclusion Tapered finger Myotonia Epispadias Spasticity Abnormal anatomic location of the heart Fixed facial expression Inferior vermis hypoplasia Zollinger-Ellison syndrome Abnormality of the penis Congenital ptosis Limb joint contracture Primitive reflex Short nose Abnormality of the upper urinary tract Colpocephaly Distal arthrogryposis Restlessness Hydroureter Dextrocardia Metatarsus adductus Mask-like facies Dystonia Prominent forehead Platyspondyly Long nose Joint laxity Skeletal dysplasia Osteopenia Long upper lip Prominent nasal tip Bruxism Prominent metopic ridge Partial agenesis of the corpus callosum Widely spaced teeth Short philtrum Microretrognathia Absence seizures Wide intermamillary distance Round face Highly arched eyebrow Downturned corners of mouth Wide nose Thin vermilion border Osteoarthritis Occipital encephalocele Mitral valve prolapse Narrow palpebral fissure Neuritis Weak voice Dysesthesia Chronic pain Facial paralysis Axonal degeneration Narrow face Cutis gyrata of scalp Hoarse voice Hypotelorism Sensory impairment Postural instability Paresthesia Facial asymmetry Paralysis Peripheral axonal degeneration Radial head subluxation Rigidity Hyperlordosis External ophthalmoplegia Respiratory insufficiency due to muscle weakness Progressive muscle weakness Left ventricular hypertrophy Generalized muscle weakness Distal muscle weakness Feeding difficulties in infancy Brachial plexus neuropathy Proximal muscle weakness Dyspnea Pes cavus Intellectual disability, mild Congestive heart failure Dysarthria Cognitive impairment Myalgia Upslanted palpebral fissure Dysphonia Clinodactyly Hypsarrhythmia Nail dysplasia Bulbous nose Severe global developmental delay Abnormality of the eye Macrotia Cerebral atrophy Cerebral visual impairment Hypertonia Diarrhea Cerebellar atrophy Vomiting Wide nasal bridge Visual impairment Small nail Adducted thumb Hyperhidrosis Dilated cardiomyopathy Depressivity Edema Abnormality of the skeletal system Fatigue Peripheral neuropathy Pain Food intolerance Abnormality of vision Clinodactyly of the 5th toe Type I transferrin isoform profile Portal fibrosis Decreased light- and dark-adapted electroretinogram amplitude Villous atrophy Severe vision loss Hypoplastic nipples EMG: myopathic abnormalities Bilateral ptosis Overgrowth Muscle fiber splitting Remnants of the hyaloid vascular system Excessive daytime sleepiness Agyria Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Peters anomaly Meningoencephalocele Aqueductal stenosis Buphthalmos Abnormality of the optic nerve Abnormal cortical gyration Retinal dysplasia Bilateral cleft lip Megalocornea Posterior fossa cyst Hypoglycosylation of alpha-dystroglycan Congenital glaucoma Midface retrusion Syncope Joint hypermobility Dolichocephaly Abnormal cardiac septum morphology Brachycephaly Hernia Abnormal aldolase level Abnormal levels of creatine kinase in blood Thick cerebral cortex Hypoplastic male external genitalia Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Macrogyria Severe hydrocephalus Metatarsus valgus Retinal atrophy Abnormality of neuronal migration Gowers sign EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Retinopathy Glaucoma Frontal bossing Macrocephaly Myopia Cataract Type 1 muscle fiber predominance Corneal opacity Facial diplegia Difficulty running Abnormal heart valve morphology Exertional dyspnea Difficulty climbing stairs Generalized amyotrophy Ophthalmoparesis Microtia Abnormality of the cerebral white matter Anophthalmia Encephalocele Congenital muscular dystrophy Atresia of the external auditory canal Optic nerve hypoplasia Lissencephaly Heterotopia Pachygyria Cerebellar vermis hypoplasia Congenital cataract Intellectual disability, profound Hypoplasia of penis Microcornea Retinal detachment Retinal dystrophy Polymicrogyria Anal atresia Intercrural pterygium


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