Hydrocephalus, and Hyporeflexia

Diseases related with Hydrocephalus and Hyporeflexia

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

Top matches:

Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Other less relevant matches:

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

Medium match ATTRV30M AMYLOIDOSIS

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

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

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Hyporeflexia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Agenesis of corpus callosum Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Hyporeflexia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Short neck Motor delay Spasticity Muscle weakness Feeding difficulties Aqueductal stenosis Microcephaly Ataxia Hearing impairment Vomiting Intellectual disability, profound Intellectual disability, severe Abnormality of the cerebral white matter Ventriculomegaly Respiratory insufficiency Coloboma Growth delay Corneal opacity Hyperreflexia Elevated serum creatine phosphokinase Frontal bossing Macrocephaly Muscular dystrophy Nystagmus

Rare Symptoms - Less than 30% cases

Hypertension Behavioral abnormality Micropenis Hypoplasia of the corpus callosum Optic atrophy Depressed nasal bridge Low-set ears Small hand Absent septum pellucidum Cerebellar vermis hypoplasia Congenital diaphragmatic hernia Polymicrogyria Oral cleft Cleft lip Hernia Cleft palate Abnormality of the skeletal system Coarse facial features Sleep disturbance Hyperactivity Dysarthria Scoliosis Self-injurious behavior Increased CSF protein Abnormal autonomic nervous system physiology Peripheral demyelination Hypotension Gliosis Facial palsy Weight loss Dementia Constipation Areflexia Arrhythmia Tremor Sensorineural hearing impairment Autism Abnormal aortic morphology Cachexia Aortic valve stenosis Cardiomegaly Brachycephaly Congestive heart failure Short stature Recurrent singultus Posterior fossa cyst Chorea Coma Cognitive impairment Autistic behavior Aggressive behavior Attention deficit hyperactivity disorder Pain Hypertonia Pachygyria Hypoplasia of the brainstem Hypoglycosylation of alpha-dystroglycan Congenital muscular dystrophy Lissencephaly Respiratory distress Hyperlordosis Ventricular hypertrophy Type II lissencephaly Dandy-Walker malformation Retinal detachment Severe global developmental delay Cerebellar hypoplasia Dilatation Cataract Microphthalmia Cerebellar dysplasia Severe muscular hypotonia Cerebellar cyst Skeletal muscle atrophy Cryptorchidism Strabismus Hypertelorism Severe hydrocephalus Flexion contracture Pes cavus Myopia Agyria Macrogyria Aplasia/Hypoplasia involving the skeletal musculature Developmental regression Amenorrhea Hypoplastic male external genitalia Cerebral calcification Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Metatarsus valgus Thick cerebral cortex Abnormality of the cerebellar vermis Abnormal pyramidal sign Diplopia Cough Abnormal levels of creatine kinase in blood Meningoencephalocele Nausea and vomiting Sudden cardiac death Abnormal aldolase level Osteopenia Abnormality of eye movement Hypothyroidism Respiratory failure Dysmetria Tetraplegia EEG abnormality Diabetes mellitus Hyperhidrosis Depressivity Pectus excavatum Kyphosis Dysphagia Gait disturbance High palate Neurological speech impairment Ptosis Failure to thrive Talipes equinovarus Bilateral cleft lip Remnants of the hyaloid vascular system Hydronephrosis Retinal dystrophy Iris coloboma Cleft upper lip Anal atresia Congenital cataract Microtia Retinopathy Protruding ear Proptosis Bifid uvula Glaucoma Posteriorly rotated ears Myopathy Blindness Proximal muscle weakness Intrauterine growth retardation Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Microcornea Specific learning disability Excessive daytime sleepiness Submucous cleft hard palate Muscle fiber splitting Peters anomaly Buphthalmos Abnormality of the optic nerve Abnormal cortical gyration Retinal dysplasia Leukodystrophy Megalocornea Retinal atrophy Occipital encephalocele Hypoplasia of penis Congenital glaucoma Abnormality of neuronal migration Anophthalmia Congenital contracture Atresia of the external auditory canal Optic nerve hypoplasia Renal dysplasia Heterotopia Encephalocele Clonus Muscle fibrillation Muscle stiffness Broad nasal tip Broad-based gait Sparse scalp hair Narrow forehead Eczema Wide intermamillary distance Underdeveloped nasal alae Short metacarpal Round face Short foot Short phalanx of finger Highly arched eyebrow Thick vermilion border Downturned corners of mouth Wide nose Short palm Thin vermilion border Joint hyperflexibility Toe syndactyly Stereotypy Sparse and thin eyebrow Scarring Supernumerary nipple Pain insensitivity Broad columella Subvalvular aortic stenosis Broad face Renal neoplasm Low hanging columella Overweight Tracheomalacia Mild short stature Short toe Obsessive-compulsive behavior Nephroblastoma Pyloric stenosis Short metatarsal Laryngomalacia Narrow palpebral fissure Short chin Multicystic kidney dysplasia Bilateral single transverse palmar creases Finger syndactyly Blepharophimosis Leukoencephalopathy Psychomotor deterioration Large face Hypersomnia Bulbar signs Hypothermia Megalencephaly Poor coordination Drowsiness Atrophy/Degeneration affecting the brainstem Progressive spasticity Progressive macrocephaly Bowel incontinence Dysphasia Emotional lability Oral-pharyngeal dysphagia Precocious puberty Encephalitis Dysphonia Sleep apnea Pseudobulbar signs Hyperpigmented nevi Sparse hair Clinodactyly of the 5th finger Feeding difficulties in infancy Conductive hearing impairment Deeply set eye Thin upper lip vermilion Pes planus Umbilical hernia Upslanted palpebral fissure Prominent forehead Inguinal hernia Microcoria Obesity Abnormality of cardiovascular system morphology Midface retrusion Malar flattening Anteverted nares Brachydactyly Abnormal facial shape Neoplasm Diffuse demyelination of the cerebral white matter Orthostatic hypotension due to autonomic dysfunction Orthostatic hypotension Urinary retention Leukopenia Hyperglycinemia Ketoacidosis Restlessness Weak cry Infantile spasms Spastic diplegia Impulsivity Poor suck Limb ataxia Hyperglycinuria Choreoathetosis Hypsarrhythmia Aciduria Reduced muscle fiber merosin Neutropenia Lethargy Irritability Apnea Vertical supranuclear gaze palsy Muscle fiber hypertrophy Abnormality of the nervous system Pallor Motor deterioration Decreased body weight Mitral regurgitation Pancytopenia Wolff-Parkinson-White syndrome Dry skin Ophthalmoplegia Generalized tonic-clonic seizures Hepatosplenomegaly Delirium Neck flexor weakness Splenomegaly Abnormal glycosylation Hepatomegaly Fatty replacement of skeletal muscle Pill-rolling tremor Moderately reduced ejection fraction Episodic ketoacidosis Nonketotic hyperglycinemia Intellectual disability, moderate Neonatal hypotonia Opacification of the corneal stroma Oxycephaly Abnormality of the pinna Polyhydramnios Polydactyly Edema Atrial septal defect Hypoplasia of the pons Flexion contracture of thumb Esodeviation Visceromegaly Micromelia Hemiplegia/hemiparesis Bilateral cryptorchidism Adducted thumb Increased intracranial pressure Holoprosencephaly Spastic paraplegia Joint stiffness Retrognathia Narrow chest Pulmonary hypoplasia Acidosis Aplastic clavicle Myoclonus Visual loss Encephalopathy Thrombocytopenia Intellectual disability, mild Abnormality of skin pigmentation High myopia Short upper lip Retinal coloboma Postaxial polydactyly Thoracic dysplasia Upper limb undergrowth Anencephaly Molar tooth sign on MRI Thoracic hypoplasia Preaxial polydactyly Short ribs Hydrops fetalis Left ventricular hypertrophy Horizontal nystagmus Oculomotor apraxia Sensory ataxia Nephropathy Bilateral sensorineural hearing impairment Dilated cardiomyopathy Neuronal loss in central nervous system Falls Migraine Urinary incontinence Tachycardia Polyneuropathy Peripheral axonal neuropathy Hallucinations Paresthesia Paraplegia Malabsorption Waddling gait Arthritis Lumbar hyperlordosis Frequent falls Scapular winging Hemiparesis Vasculitis Infantile muscular hypotonia Amyloidosis Abnormal renal physiology Myelopathy Constrictive median neuropathy Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Myalgia Syringomyelia Decreased number of peripheral myelinated nerve fibers Paraparesis Babinski sign Axonal degeneration Aphasia Malnutrition Impotence Cerebral hemorrhage Rheumatoid arthritis Atrioventricular block Spastic paraparesis Reduced tendon reflexes Headache Aortic regurgitation Abnormal mitral valve morphology Mitral valve calcification Corneal crystals Abnormal saccadic eye movements Aortic valve calcification Reticular hyperpigmentation Generalized amyotrophy Abnormality of the pulmonary artery Abnormal aortic valve morphology Foam cells Spontaneous, recurrent epistaxis Supranuclear gaze palsy Communicating hydrocephalus Mitral stenosis Abnormal EKG Abnormal heart valve morphology Exertional dyspnea Heart murmur Spinal rigidity Supranuclear ophthalmoplegia Abnormal aortic arch morphology Renal insufficiency Calf muscle hypertrophy Diarrhea Cardiomyopathy Limb-girdle muscular dystrophy Fever Gowers sign Peripheral neuropathy Visual impairment Skeletal muscle hypertrophy Cardiovascular calcification Elevated serum acid phosphatase Aortic arch calcification Abnormal common carotid artery morphology Hypometric horizontal saccades Slowed horizontal saccades Cardiac valve calcification Abnormality of toe Decreased beta-glucocerebrosidase protein and activity Bacterial endocarditis Calcification of the aorta Self-biting


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