Arthritis, and Spina bifida

Diseases related with Arthritis and Spina bifida

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


Top matches:

Low match EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY


Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY

Low match CRANIO-OSTEOARTHROPATHY


Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.

CRANIO-OSTEOARTHROPATHY Is also known as sdam|currarino idiopathic osteoarthropathy|currarino disease|reginato-schiapachasse syndrome

Related symptoms:

  • Ventricular septal defect
  • Headache
  • Patent ductus arteriosus
  • Constipation
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIO-OSTEOARTHROPATHY

Low match ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A


Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

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Other less relevant matches:

Low match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA


Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness|weissenbacher-zweymuller syndrome, formerly|nance-insley syndrome|osmed|nance-sweeney chondrodysplasia|wzs, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS


Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS Is also known as semd-md|semdjl2|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with joint laxicity, hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

Low match CHST3-RELATED SKELETAL DYSPLASIA


CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

CHST3-RELATED SKELETAL DYSPLASIA Is also known as chondrodysplasia with multiple dislocations|cdmd|humerospinal dysostosis|spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type|sdcd, chst3 type|hsd|spondyloepiphyseal dysplasia, omani type|chondrodysplasia with congenital joint dislo

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHST3-RELATED SKELETAL DYSPLASIA

Low match MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

Low match VELOCARDIOFACIAL SYNDROME


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

Low match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Low match DIGEORGE SYNDROME; DGS


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

Top 5 symptoms//phenotypes associated to Arthritis and Spina bifida

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Arthritis and Spina bifida. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Abnormality of cardiovascular system morphology Strabismus Ventricular septal defect Micrognathia Abnormal facial shape Generalized hypotonia Kyphoscoliosis Meningocele Atrial septal defect Cleft palate Muscle weakness Talipes Global developmental delay Inguinal hernia Kyphosis Hypertelorism Microcephaly Seizures Conductive hearing impairment Malar flattening Bulbous nose Rheumatoid arthritis Arthralgia Spina bifida occulta Joint laxity Nasal speech Muscular hypotonia Psoriasiform dermatitis Abnormality of the skeletal system Joint hyperflexibility Dental malocclusion Underdeveloped nasal alae Enlarged joints Hypothyroidism Hernia Umbilical hernia Blepharophimosis Abnormal heart morphology Delayed skeletal maturation Sacral meningocele Hyperlordosis Cognitive impairment Low posterior hairline Platyspondyly Delayed speech and language development Hip dislocation Osteoarthritis Joint stiffness Retrognathia Unilateral renal agenesis Long philtrum Short nose Deeply set eye Telecanthus Pes planus Fever Talipes equinovarus Posteriorly rotated ears Patent ductus arteriosus Camptodactyly Low-set ears Bifid uvula

Rare Symptoms - Less than 30% cases


Micromelia Hydronephrosis Specific learning disability Amenorrhea Renal agenesis Feeding difficulties in infancy Tetralogy of Fallot Autoimmunity Mitral regurgitation Myopia Midface retrusion Chorea Hemolytic anemia Aortic regurgitation Craniosynostosis Overbite Anteverted nares Microdontia Short philtrum Depressed nasal bridge Epiphyseal dysplasia Retinal detachment Cholelithiasis Right aortic arch Bicuspid aortic valve Arnold-Chiari malformation Joint dislocation Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Irregular vertebral endplates Schizophrenia Abnormality of the hand Myelomeningocele Impaired T cell function Truncus arteriosus Small epiphyses Irregular epiphyses Hypoplasia of the capital femoral epiphysis Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Spinal dysraphism Autoimmune thrombocytopenia Acne Inflammation of the large intestine Autoimmune hemolytic anemia Broad nasal tip Genu valgum Short metacarpal Hypocalcemia Otitis media Limb undergrowth Lumbar hyperlordosis Abnormal form of the vertebral bodies Primary amenorrhea Rhizomelia Renal dysplasia Short long bone Neoplasm Heart murmur Flared metaphysis Abnormal joint morphology Pulmonic stenosis Right aortic arch with mirror image branching Skeletal dysplasia Microtia Pierre-Robin sequence Camptodactyly of finger Pectus excavatum Coronal cleft vertebrae Premature osteoarthritis Arteria lusoria Aplasia of the thymus Conotruncal defect Brachydactyly Retinal vascular tortuosity Intellectual disability, mild Purpura Duodenal stenosis Abnormality of the pinna Mandibular prognathia Rocker bottom foot Constipation Behavioral abnormality Hydrocephalus Hypoplasia of the corpus callosum Spinal deformities Anemia Lipoma Hypoplasia of the brainstem Back pain Cataract Holoprosencephaly Dilatation Clinodactyly Anal atresia Headache Recurrent infections Gastroesophageal reflux High, narrow palate Soft skin Amblyopia Mitral valve prolapse Exotropia Vesicoureteral reflux Joint hypermobility Arachnodactyly Stroke Arrhythmia Peripheral neuropathy Pain Immunodeficiency Narrow vertebral interpedicular distance Coarctation of aorta Anxiety Glaucoma Thrombocytopenia Hypertonia Cerebellar atrophy Myopathy Wide nasal bridge Ptosis Cryptorchidism Postnatal growth retardation Small for gestational age Short palpebral fissure Hyperactivity Narrow mouth Broad thumb Abnormality of the skin Aggressive behavior Thoracic kyphosis Congenital contracture Obesity Hypospadias Myopathic facies Aortic dissection Genu recurvatum Obstructive sleep apnea Arachnoid cyst Hypoplasia of the iris Subarachnoid hemorrhage Mental deterioration Open bite Megalocornea Abnormality of the sternum Dilatation of the cerebral artery Aortic root aneurysm Decreased muscle mass Obsessive-compulsive behavior Congenital cataract Disproportionate tall stature Restrictive ventilatory defect Reduced subcutaneous adipose tissue Dysmetria Striae distensae Slender finger Apathy Dysdiadochokinesis Spondylolisthesis Absent speech Pulmonary edema Spontaneous pneumothorax Intellectual disability, severe Depressivity Psychosis Peripheral demyelination Inferior oblique muscle overaction Medial rotation of the medial malleolus Open mouth Mitral annular calcification Pulmonary artery dilatation Incisional hernia Increased axial length of the globe Anisometropia Overjet Hallucinations Cystic medial necrosis Low back pain Endocarditis Homocystinuria Pneumothorax Hypoplasia of the musculature Narrow palpebral fissure Ascending tubular aorta aneurysm Thoracic aortic aneurysm Tricuspid valve prolapse Microspherophakia Dural ectasia Protrusio acetabuli Dementia Multicystic kidney dysplasia Flat cornea Hypertropia Hypopnea Gait disturbance Abnormality of the ear 11 pairs of ribs Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Varicocele Expressive language delay Short upper lip Stiff neck Tethered cord Broad columella Hyperextensibility of the finger joints Speech apraxia Villous atrophy Enlarged naris Enuresis Short attention span Abnormality of the clavicle Short columella Cone-shaped epiphyses of the phalanges of the hand Sprengel anomaly Short clavicles Proportionate short stature Celiac disease High pitched voice Preauricular pit Impulsivity Epididymal cyst Curved fingers Language impairment Anterior segment developmental abnormality Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Perisylvian polymicrogyria Alcoholism Femoral hernia Hypoplasia of the thymus Tetany Broad fingertip Sclerocornea Iris coloboma Polymicrogyria Astigmatism Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Abnormality of the kidney Cleft lip Microphthalmia Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Clubbing Trigonocephaly Basal ganglia calcification Psychotic episodes Large for gestational age Intrauterine growth retardation Dysarthria Hyperreflexia Hypertension Growth delay Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Velopharyngeal insufficiency Abnormality of the dentition Giant platelets Paranoia Mood swings Platybasia Pulmonary artery atresia Abnormality of the endocrine system Echolalia Delusions Hearing abnormality Anal stenosis Submucous cleft hard palate Axonal loss Vomiting Clinodactyly of the 5th finger Abnormality of the voice Hypoplasia of the maxilla Abnormality of the fingernails Nephrocalcinosis Finger clinodactyly Generalized hirsutism Short thumb Long eyelashes Recurrent otitis media Interphalangeal joint contracture of finger Apraxia Hypoplasia of penis Prominent nose Triangular face Small hand Babinski sign Downturned corners of mouth Hirsutism Thin vermilion border Smooth philtrum Poor speech Malabsorption Hypermetropia Neurological speech impairment Prominent nasal bridge Wide mouth Intellectual disability, moderate Thin upper lip vermilion Upslanted palpebral fissure Emphysema Short thorax Epiphora Adducted thumb Ulnar deviation of the hand or of fingers of the hand Abnormal auditory evoked potentials Flexion contracture of toe Dimple chin Breech presentation Trismus Malignant hyperthermia Distal arthrogryposis Atrophy/Degeneration affecting the brainstem Hip contracture Mask-like facies Pterygium Knee flexion contracture Whistling appearance Joint contracture of the hand Intellectual disability, profound Flat face Arthrogryposis multiplex congenita Prominent forehead Epicanthus Failure to thrive Hydromyelia Presacral teratoma Anterior sacral meningocele Hemisacrum Cloacal exstrophy Rectal fistula Shoulder flexion contracture Chin with H-shaped crease Sirenomelia Vitreoretinopathy Wide nose Osteoporosis Elevated serum creatine phosphokinase Frontal bossing Macrocephaly Aplasia/Hypoplasia of the capital femoral epiphysis Large tarsal bones Abnormal lacrimal duct morphology Prominent interphalangeal joints Enlarged epiphyses Short 5th metacarpal Beaking of vertebral bodies Glossoptosis Sensorineural hearing impairment Synostosis of carpal bones Occipital encephalocele Disproportionate short stature Mixed hearing impairment Prominent supraorbital ridges Recurrent pneumonia Short phalanx of finger Encephalocele Abnormality of the metaphysis Depressed nasal ridge Short palm Muscular hypotonia of the trunk Proptosis Sacral lipoma Dermoid cyst Abnormality of epiphysis morphology Hiatus hernia Premature arteriosclerosis Ambiguous genitalia, female Congenital adrenal hyperplasia Arteriosclerosis Rectal prolapse Poor wound healing Muscle fiber splitting Increased connective tissue Precocious atherosclerosis Bicornuate uterus Proximal amyotrophy Adrenal hyperplasia Adrenal hypoplasia Diabetes mellitus Atrophic scars Hyperextensible skin Thin skin Ambiguous genitalia Gastrointestinal hemorrhage Single transverse palmar crease Sensory neuropathy Bruising susceptibility Scarring Myalgia Proximal muscle weakness Fatigue Skeletal muscle atrophy Quadricuspid aortic valve Urinary incontinence Exstrophy Abnormality of tibia morphology Rectal abscess Absence of the sacrum Clubbing of toes Cyclopia Mottled pigmentation Lower limb undergrowth Bladder exstrophy Teratoma Deviation of finger Urinary retention Abnormality of the knee Neurogenic bladder Abnormal cortical bone morphology Chronic constipation Eczema Maternal diabetes Abnormality of the skull Syringomyelia Joint swelling Transposition of the great arteries Hyperostosis Tracheoesophageal fistula Abnormality of the genitourinary system Type I diabetes mellitus Meningitis Situs inversus totalis Large fontanelles Omphalocele Nail dysplasia Congenital hip dislocation Hammertoe Abnormality of the carpal bones Multiple carpal ossification centers Limited hip extension Generalized bone demineralization Intervertebral disc degeneration Tricuspid stenosis Anisospondyly Intervertebral space narrowing Sclerotic vertebral endplates Shoulder dislocation Multiple joint dislocation Knee dislocation Decreased hip abduction Frontal upsweep of hair Fixed elbow flexion Ulnar bowing Flattened epiphysis Shield chest Disproportionate short-trunk short stature Mitral stenosis Short 4th metacarpal High anterior hairline Barrel-shaped chest Abnormality of the elbow Short humerus Arthropathy Thin ribs Vertebral fusion Deviation of the 5th finger Downslanted palpebral fissures Limited elbow extension Cardiomegaly Aortic aneurysm Ectopia lentis Redundant skin Sleep apnea Narrow palate Spontaneous abortion Elbow flexion contracture Narrow face Tall stature Dental crowding Decreased body weight Abnormal lung morphology Abnormality of the cardiovascular system Respiratory insufficiency Overgrowth Esotropia Chest pain Polyneuropathy Long face Peripheral axonal neuropathy Dolichocephaly Pectus carinatum Apnea Pes cavus Visual loss Congestive heart failure Edema Tibial bowing Short femoral neck Genu varum Thoracolumbar kyphosis Delayed patellar ossification Narrow femoral neck Slender metacarpals Posterior scalloping of vertebral bodies Abnormality of the patella Large joint dislocations Laryngotracheomalacia Abnormal bone ossification Laryngeal stenosis Abnormal sacrum morphology Inspiratory stridor Flat capital femoral epiphysis Enlarged thorax Abnormal calcification of the carpal bones Broad distal phalanx of finger Carpal bone hypoplasia Generalized osteoporosis Spondyloepimetaphyseal dysplasia Upper airway obstruction Generalized joint laxity Delayed epiphyseal ossification Thoracolumbar scoliosis Tracheomalacia Thoracic scoliosis Dislocated radial head Metaphyseal irregularity Stridor Streaky metaphyseal sclerosis Slender proximal phalanx of finger Hallux valgus Ventricular hypertrophy Bilateral talipes equinovarus Hypoplasia of the ulna Spondyloepiphyseal dysplasia Tricuspid regurgitation Cubitus valgus Sparse eyebrow Elbow dislocation Delayed gross motor development Widely spaced teeth Bilateral single transverse palmar creases Aortic valve stenosis Sparse and thin eyebrow Bowing of the long bones Pulmonary arterial hypertension Caudal interpedicular narrowing Wide intermamillary distance Waddling gait Delayed eruption of teeth Highly arched eyebrow Short distal phalanx of finger Thick eyebrow Broad forehead Severe short stature Motor delay Delayed phalangeal epiphyseal ossification Long proximal phalanx of finger Long distal phalanx of finger Slender distal phalanx of finger Type I truncus arteriosus



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