Hydrocephalus, and Rheumatoid arthritis

Diseases related with Hydrocephalus and Rheumatoid arthritis

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

Top matches:

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

Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Other less relevant matches:

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Hypertension


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Top 5 symptoms//phenotypes associated to Hydrocephalus and Rheumatoid arthritis

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Arthritis Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Global developmental delay Cleft palate Depressivity Obsessive-compulsive behavior Anemia Behavioral abnormality Hypertension Talipes equinovarus Cognitive impairment Hypothyroidism Hypertelorism Anxiety Osteoarthritis Flexion contracture Ptosis Joint dislocation Dilatation Abnormality of cardiovascular system morphology Hypospadias Inguinal hernia Proptosis Umbilical hernia Bradykinesia Hypocalcemia Gait ataxia Micrognathia Chorea Schizophrenia High palate Arnold-Chiari malformation Atrial septal defect Immunodeficiency Recurrent infections Thrombocytopenia Patent ductus arteriosus Posteriorly rotated ears Retrognathia Bicuspid aortic valve Bifid uvula Delayed speech and language development Rigidity Nystagmus Tremor Fever Ataxia Dementia

Rare Symptoms - Less than 30% cases

Inflammation of the large intestine Focal dystonia Autoimmune hemolytic anemia Progressive flexion contractures Decreased CSF homovanillic acid Myopathic facies Cataract Transient hyperphenylalaninemia Long thorax Acne Unilateral renal agenesis Muscle weakness Abnormality of the substantia nigra Psoriasiform dermatitis Paresis of extensor muscles of the big toe Abnormality of the metaphysis Ascending tubular aorta aneurysm Generalized dystonia Posterior embryotoxon Autoimmune thrombocytopenia Brisk reflexes Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Abnormal joint morphology Postural tremor Myelomeningocele Truncus arteriosus Lower limb hyperreflexia Limb dystonia Meningocele Impaired vibration sensation in the lower limbs Dilatation of the cerebral artery Hypoparathyroidism Vitiligo Narrow nose Bipolar affective disorder Cholelithiasis Dermal translucency Spasticity Nasal speech Cerebellar atrophy Hemolytic anemia Bulbous nose Facial palsy Weight loss Ventricular septal defect Short neck Hypoplasia of the corpus callosum Autoimmunity Paraplegia Blepharophimosis Abnormality of the pinna Hernia Obesity Mental deterioration Aggressive behavior Abnormal heart morphology Abnormal facial shape Microcephaly Pain Spina bifida Interrupted aortic arch Visual impairment Purpura Peripheral axonal neuropathy Skeletal dysplasia Kyphoscoliosis Pulmonary artery aneurysm Renal dysplasia Dysarthria Clinodactyly of the 5th finger Primary amenorrhea Low posterior hairline Tetralogy of Fallot Amenorrhea Specific learning disability Renal agenesis Confusion Graves disease Torticollis Perimembranous ventricular septal defect Respiratory insufficiency Carious teeth Hypertonia Telecanthus Rhinitis Gliosis Narrow mouth Craniosynostosis Migraine Aortic aneurysm Neuronal loss in central nervous system Abnormality of the dentition Peripheral demyelination Thin vermilion border Macrocephaly Hallucinations Akinesia Exotropia Involuntary movements Abnormal cerebellum morphology Neurodegeneration Abnormality of movement Hyperreflexia Gait disturbance Irritability Dystonia Strabismus Hyperactivity Right aortic arch Impaired T cell function Parkinsonism Sleep disturbance Conotruncal defect Pes cavus Aplasia of the thymus Duodenal stenosis Arteria lusoria Retinal vascular tortuosity Babinski sign Fatigue Paranoia Abnormality of the skeletal system Frontal bossing Blue sclerae Mitral valve prolapse Abnormality of extrapyramidal motor function Horizontal nystagmus Bruising susceptibility Right aortic arch with mirror image branching Sacral meningocele High, narrow palate Progressive cerebellar ataxia Brain atrophy Broad-based gait Generalized-onset seizure Progressive neurologic deterioration Clumsiness Type II diabetes mellitus Suicidal ideation Gaze-evoked nystagmus Dysphonia Spastic diplegia Falls Resting tremor Hyperactive deep tendon reflexes Infertility Abnormality of eye movement Abnormality of the cerebral white matter Cough Bicuspid pulmonary valve Spastic paraplegia Hyperkinesis Difficulty walking Abnormal involuntary eye movements Mania Frequent temper tantrums Oral motor hypotonia Testicular atrophy Dilated fourth ventricle Chronic bronchitis Motor delay Head tremor Encephalopathy Hyperlordosis Incoordination Generalized arterial tortuosity Restlessness Cerebellar vermis atrophy Abnormal pyramidal sign Bronchitis Muscle fibrillation Neuronal loss in basal ganglia Hypokinesia Personality changes Slurred speech Cerebral palsy Upper limb undergrowth Eczema Descending thoracic aorta aneurysm Scaphocephaly Osteopetrosis Aseptic necrosis Aortic root aneurysm Osteomyelitis Hyperostosis Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Cranial nerve paralysis Bone marrow hypocellularity Increased bone mineral density Bone pain Lymphedema Abnormality of epiphysis morphology Recurrent urinary tract infections Abnormal cranial nerve morphology Mandibular prognathia Growth delay Optic atrophy Edema Blindness Visual loss Pneumonia Hepatosplenomegaly Pancytopenia Soft skin Paralysis Genu valgum Short distal phalanx of finger Recurrent fractures Ectodermal dysplasia Abnormality of the sternum Atrophic scars Hyperplasia of the femoral trochanters Abnormality of the vertebral endplates Mitral regurgitation Asthma Arachnodactyly Facial asymmetry Dolichocephaly Broad forehead Pectus carinatum Camptodactyly Joint laxity Pes planus Clinodactyly Malar flattening Downslanted palpebral fissures Myopia Mandibular osteomyelitis Facial paralysis Joint contracture of the hand Disproportionate tall stature Hallux valgus Ectopia lentis Generalized osteosclerosis Microretrognathia Finger clinodactyly Extramedullary hematopoiesis Tooth abscess Fractures of the long bones Hip osteoarthritis Cranial hyperostosis Lumbar scoliosis Abnormal leukocyte morphology Elevated serum acid phosphatase Absent primary metaphyseal spongiosa Halberd-shaped pelvis Multiple suture craniosynostosis Axial dystonia Platyspondyly Camptodactyly of finger Joint stiffness High forehead Respiratory failure Prominent forehead Severe short stature Midface retrusion Kyphosis Brachydactyly Depressed nasal bridge Fixed facial expression Obsessive-compulsive trait Infantile encephalopathy Writer's cramp Narrow chest Thoracic aortic aneurysm Cystic medial necrosis Ascending aortic dissection Dural ectasia Unilateral ptosis Upper motor neuron dysfunction Arterial tortuosity Long toe High anterior hairline Torsion dystonia Sagittal craniosynostosis Postaxial hand polydactyly Spondylolisthesis Parkinsonism with favorable response to dopaminergic medication Oromandibular dystonia Arthrogryposis multiplex congenita Micromelia Dumbbell-shaped metaphyses Abnormality of the intervertebral disk Long coccyx Abnormal metaphyseal vascular invasion Relatively short spine Snail-like ilia Flared humeral metaphysis Short diaphyses Hypoplastic cervical vertebrae Flared femoral metaphysis Anisospondyly Abnormal enchondral ossification Cervical instability Severe platyspondyly Pseudoarthrosis Caudal appendage Thoracic kyphoscoliosis Limb undergrowth Short finger Abnormality of the ribs Interphalangeal joint contracture of finger Abnormal form of the vertebral bodies Short ribs Epiphyseal dysplasia Multiple joint contractures Hypoplasia of the odontoid process Rough bone trabeculation Aplasia/Hypoplasia of the lungs Fetal akinesia sequence Abnormal cortical bone morphology Flared iliac wings Enlarged joints Spondylometaphyseal dysplasia Low-set, posteriorly rotated ears Echolalia Diabetes mellitus Abnormality of the face Abnormality of the urinary system Tinnitus Sleep apnea Abnormal intestine morphology Osteolysis Short chin Congenital hip dislocation Cardiac arrest Gingival overgrowth Telangiectasia Subcutaneous nodule Thin skin Redundant skin Microdontia Abnormality of the skin Premature birth Abnormal bleeding Flat face Joint hypermobility Abnormality of skin pigmentation Vertigo Joint hyperflexibility Hip dislocation Protruding ear Hypokalemia Melanocytic nevus Glaucoma Alopecia of scalp Reduced consciousness/confusion Osteolytic defects of the phalanges of the hand Varicose veins Hematochezia Abnormally large globe Periodontitis Aortic dissection Gingivitis Transient ischemic attack Abnormal eyelash morphology Subarachnoid hemorrhage Premature loss of teeth Aplasia/Hypoplasia of the eyebrow Sprengel anomaly Esophageal atresia Hemoptysis Prematurely aged appearance Keratoconus Scleroderma Fragile skin Abnormal heart valve morphology Telangiectasia of the skin Narrow nasal bridge Macule Deeply set eye Alopecia Abnormal pupil morphology Malabsorption Abnormal autonomic nervous system physiology Vasculitis Hemiparesis Cardiomegaly Bilateral sensorineural hearing impairment Hypotension Urinary incontinence Coma Polyneuropathy Nephropathy Paresthesia Constipation Spastic paraparesis Hyporeflexia Areflexia Arrhythmia Headache Renal insufficiency Congestive heart failure Diarrhea Vomiting Cardiomyopathy Peripheral neuropathy Sensorineural hearing impairment Paraparesis Atrioventricular block Pectus excavatum Constrictive median neuropathy Epicanthus Cryptorchidism Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Abnormal renal physiology Myelopathy Stroke-like episode Cachexia Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Amyloidosis Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Axonal degeneration Aphasia Malnutrition Impotence Cerebral hemorrhage Aplasia/Hypoplasia of the earlobes Aplasia/Hypoplasia of the abdominal wall musculature Myoclonus Vascular ring Attention deficit hyperactivity disorder Abnormality of the kidney Cleft lip Hydronephrosis Microphthalmia Low-set ears Neoplasm Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Central nervous system degeneration Microtia Psychotic episodes Velopharyngeal insufficiency Giant platelets Mood swings Platybasia Pulmonary artery atresia Abnormality of the endocrine system Pierre-Robin sequence Delusions Hearing abnormality Anal stenosis Short philtrum Generalized tonic-clonic seizures Axonal loss Perisylvian polymicrogyria Ventriculomegaly Dysphagia Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Alcoholism Astigmatism Femoral hernia Hypoplasia of the thymus Anterior segment developmental abnormality Tetany Sclerocornea Amblyopia Broad thumb Short palpebral fissure Coarctation of aorta Iris coloboma Polymicrogyria Submucous cleft hard palate Basal ganglia calcification Bladder diverticulum Arterial dissection Foot acroosteolysis Spontaneous pneumothorax Molluscoid pseudotumors Coronary artery aneurysm Gingival recession Normal pressure hydrocephalus Peripheral arteriovenous fistula Renovascular hypertension Absent earlobe Arteriovenous fistula Cigarette-paper scars Internal hemorrhage Uterine rupture Colonic diverticula Abnormality of the gingiva Abnormal oral frenulum morphology Gastrointestinal infarctions Excessive wrinkled skin Abnormality of hair texture Ocular pain Arterial stenosis Premature loss of primary teeth Periorbital edema Pneumothorax Arterial rupture Uterine prolapse Abnormality of the ear Dysmetria Hypoplasia of the brainstem Apathy Dysdiadochokinesis Abnormality of the hand Holoprosencephaly Narrow palpebral fissure Multicystic kidney dysplasia Open mouth Psychosis Underdeveloped nasal alae Vesicoureteral reflux Anal atresia Arteriovenous fistulas of celiac and mesenteric vessels Pulmonic stenosis Congenital cataract Conductive hearing impairment Absent speech Intellectual disability, severe Muscular hypotonia Generalized hypotonia Hypermobility of distal interphalangeal joints Hemothorax Premature delivery because of cervical insufficiency or membrane fragility Cystocele Hypoplastic lacrimal duct Biconvex vertebral bodies


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