Hyperreflexia, and Arachnodactyly

Diseases related with Hyperreflexia and Arachnodactyly

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

Top matches:

Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY Is also known as scar16|spinocerebellar ataxia autosomal recessive type 16

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY

Other less relevant 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

17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

17Q23.1Q23.2 MICRODELETION SYNDROME Is also known as 17q23.1-q23.2 microdeletion syndrome|del(17)(q23.1q23.2)|monosomy 17q23.1q23.2|monosomy 17q23.1-q23.2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q23.1Q23.2 MICRODELETION SYNDROME

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT 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

The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Top 5 symptoms//phenotypes associated to Hyperreflexia and Arachnodactyly

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Abnormal facial shape Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Absent speech Growth delay Cerebellar atrophy Talipes equinovarus Malar flattening Hypertonia High palate Hearing impairment Bulbous nose Intellectual disability, severe Muscular hypotonia Nystagmus Epicanthus Cerebral cortical atrophy Low-set ears Failure to thrive Skeletal muscle atrophy Adducted thumb Hypertelorism Macrotia Hypoplasia of the corpus callosum Gastroesophageal reflux Abnormality of the foot Wide nasal bridge Slender finger Ataxia Flexion contracture Abnormality of the eye Poor speech Micrognathia Cataract Depressed nasal bridge Narrow forehead Long face Postnatal microcephaly Intrauterine growth retardation Thick eyebrow Sleep disturbance Prominent nose Thin upper lip vermilion Camptodactyly Gait ataxia Behavioral abnormality Intellectual disability, mild Clinodactyly of the 5th finger Narrow mouth Midface retrusion Feeding difficulties Ptosis Cleft palate Decreased testicular size Cerebellar hypoplasia Drooling Anteverted nares Narrow face Severe global developmental delay Babinski sign Cerebral atrophy Vomiting Pectus excavatum Joint contracture of the hand Optic atrophy Pes planus Long philtrum Cognitive impairment Upslanted palpebral fissure Muscular hypotonia of the trunk Truncal ataxia

Rare Symptoms - Less than 30% cases

Hyperkinesis Blindness Postnatal growth retardation Aggressive behavior Protruding ear Arthrogryposis multiplex congenita Clinodactyly Coloboma Iris coloboma Nail dysplasia Atrial septal defect Frontal bossing Hypsarrhythmia Small nail Long fingers Scoliosis Small for gestational age Retinopathy Anxiety Limitation of joint mobility Renal hypoplasia Microphthalmia Hypospadias Pes cavus Mandibular prognathia Spastic paraplegia Paraplegia Cachexia Intellectual disability, progressive Mild short stature Ventriculomegaly Open mouth Dystonia Pneumonia Abnormality of the kidney Wide mouth Sensorineural hearing impairment Conspicuously happy disposition Long eyelashes Autism Widely spaced teeth Brachydactyly Abnormality of the dentition Hernia Posteriorly rotated ears Brachycephaly Hyperactivity Abnormality of eye movement Happy demeanor Short philtrum Prominent nasal bridge Joint hyperflexibility Intellectual disability, profound Tented upper lip vermilion Long nose Infantile muscular hypotonia Sparse hair Talipes Visual impairment Thin vermilion border Downslanted palpebral fissures Short nose Dysarthria Abnormality of the pinna Tremor Unsteady gait Gait disturbance Smooth philtrum Ophthalmoplegia Inability to walk Gaze-evoked nystagmus Hypothyroidism Diabetes mellitus Hypogonadism Thick vermilion border Triangular face Brain atrophy Alopecia Dysphagia Progressive microcephaly Long toe Progressive cerebellar ataxia Mutism Broad-based gait Pachygyria Hypoplasia of the brainstem Abnormality of vision Anteverted ears Abnormality of neuronal migration Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Flat occiput Anemia Congenital hypothyroidism Glomerulosclerosis Hypoalbuminemia Chronic kidney disease Macrodontia Lissencephaly Severe muscular hypotonia Broad columella Abnormality of immune system physiology Thin eyebrow Ankylosis Mild microcephaly Aspiration pneumonia Prominent metopic ridge Adrenal hypoplasia Hiatus hernia Sprengel anomaly Sparse lateral eyebrow Opacification of the corneal stroma Abnormality of the thumb Small face Hypoplasia of the iris Abnormality of the rib cage Proportionate short stature Heterotaxy Moderately short stature Aspiration Abnormal hair laboratory examination EEG abnormality Abnormality of metabolism/homeostasis Camptodactyly of finger Neonatal hypotonia Irritability Intellectual disability, moderate Proteinuria Abnormality of movement Nephropathy Dilatation Renal insufficiency Dysmetria Decreased head circumference Edema Hydrocephalus Hematuria Hypopigmentation of the skin Phimosis Sloping forehead Heterotopia Round ear Spastic tetraplegia Nephrotic syndrome Hypotelorism Oligohydramnios Dandy-Walker malformation Ascites Narrow foot Premature birth Esophagitis Chorea Gliosis Tetraplegia Delayed myelination Abnormal renal physiology Tubular atrophy Microtia Abnormality of the genital system Thick lower lip vermilion Vesicoureteral reflux Macroglossia Tapered finger Genu valgum Nail dystrophy Dolichocephaly Telecanthus Increased body weight Coarse facial features Kyphoscoliosis Micropenis Constipation Delayed skeletal maturation Obesity Short neck Cryptorchidism Exotropia Scrotal hypoplasia Photosensitive tonic-clonic seizures U-Shaped upper lip vermilion Overjet Paroxysmal bursts of laughter Alternating exotropia Hypoplastic philtrum Equinovarus deformity Widely-spaced maxillary central incisors Talipes calcaneovalgus Bilateral renal hypoplasia Short upper lip Encephalitis Lower limb hypertonia Asplenia Facial hypotonia Protruding tongue Abnormality of blood and blood-forming tissues External genital hypoplasia Bilateral cryptorchidism Radial deviation of finger Loss of ability to walk in first decade Inappropriate laughter Diffuse cerebral atrophy Abnormality of the intervertebral disk Pain Projectile vomiting Thyroid dysgenesis Laryngospasm Hypoplasia of the ear cartilage Encephalomalacia Albuminuria Congenital nephrotic syndrome Axial dystonia Deeply set eye Diffuse mesangial sclerosis Diaphragmatic eventration Narrow nasal ridge Hand clenching Periorbital edema Spastic diplegia Spastic ataxia Aqueductal stenosis Encephalopathy Developmental regression Abnormality of the nose Aplasia/Hypoplasia of the corpus callosum Dyslexia Atrophy/Degeneration affecting the brainstem Dysphasia Bowel incontinence Decreased muscle mass Aplasia/Hypoplasia of the cerebellum Abnormality of the thorax Motor delay Clonus Feeding difficulties in infancy Stereotypy Decreased body weight Involuntary movements Generalized-onset seizure Neuronal loss in central nervous system Epileptic encephalopathy Urinary incontinence Narrow chest High hypermetropia Tetralogy of Fallot Intention tremor Sensory neuropathy Peripheral axonal neuropathy Sandal gap Bilateral single transverse palmar creases Abnormality of epiphysis morphology Distal amyotrophy Pulmonary arterial hypertension Esotropia Highly arched eyebrow Bicuspid aortic valve Postural instability Memory impairment Abnormal cardiac septum morphology Type II diabetes mellitus Lower limb spasticity Limb ataxia Horizontal nystagmus Sacral dimple Congenital contracture Type I diabetes mellitus Coxa magna Glaucoma Macrocephaly Difficulty walking Rigidity Neurological speech impairment Infertility Chalazion Retinopathy of prematurity Chronic otitis media Shallow acetabular fossae Moderate global developmental delay Patellar hypoplasia Bifid nose Mild global developmental delay Blepharitis Shawl scrotum Dyspnea Oculomotor apraxia Osteoporosis Speech apraxia Progeroid facial appearance Hypoplasia of the pons Bifid uvula Head tremor Corpus callosum atrophy Ulcerative colitis Impaired proprioception Saccadic smooth pursuit Cerebral visual impairment Delayed menarche Iridocyclitis Diarrhea Abnormal involuntary eye movements Old-aged sensorineural hearing impairment Parietal cortical atrophy Abnormality of the sella turcica Oligomenorrhea Hand tremor Patent ductus arteriosus Hyperactive deep tendon reflexes Pancreatitis External ophthalmoplegia Postural tremor Sensory axonal neuropathy Ankle clonus Hypertension Colitis Uveitis Retinal atrophy Food intolerance 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 Inguinal hernia Hyperhidrosis Cupped ear Toe clinodactyly Nonprogressive cerebellar ataxia Narrow jaw Narrow maxilla Incomprehensible speech Dacryocystitis Large beaked nose Median cleft palate Abnormality of the skeletal system Cortical gyral simplification Pes valgus Overbite Excessive salivation Generalized osteoporosis Cleft soft palate Conical tooth Broad hallux phalanx Ventricular septal defect Abnormal heart morphology Self-mutilation Abnormality of the ribs Chorioretinal coloboma Failure to thrive in infancy Nasal speech Poor suck Abnormality of the hair Situs inversus totalis Cerebral palsy Abnormal motor evoked potentials Toe walking Hypoplasia of the maxilla High, narrow palate Anal atresia Hypermetropia Dysdiadochokinesis Joint stiffness Abnormality of the nervous system Severe short stature Short columella Narrow nose Myoclonus Broad forehead Ectodermal dysplasia Downturned corners of mouth Wide nose Short palm Facial asymmetry Leukodystrophy Abnormality of the cerebral white matter CNS hypomyelination Febrile seizures Attention deficit hyperactivity disorder Overfolded helix Global brain atrophy Joint laxity Peripheral neuropathy Osteopenia High forehead Dental malocclusion Convex nasal ridge Abnormality of the periventricular white matter Relative macrocephaly Restlessness Abnormality of digit Myopathic facies Bilateral talipes equinovarus Overlapping toe Abnormality of dental morphology Dermal atrophy Oligodontia Generalized tonic-clonic seizures Pectus carinatum Microretrognathia Dental crowding Broad thumb Thin skin Hemiparesis Short palpebral fissure Fine hair Triangular nasal tip


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