Arthritis, and Talipes

Diseases related with Arthritis and Talipes

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


Top matches:

Low match VERTICAL TALUS, CONGENITAL; CVT


Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by Dobbs et al., 2006).

VERTICAL TALUS, CONGENITAL; CVT Is also known as pes valgus, congenital convex|rocker-bottom foot

Related symptoms:

  • Pain
  • Flexion contracture
  • Talipes equinovarus
  • Arthritis
  • Abnormality of the foot


SOURCES: ORPHANET OMIM MENDELIAN

More info about VERTICAL TALUS, CONGENITAL; CVT

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Low match EHLERS-DANLOS SYNDROME TYPE 7B


Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA


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

Low match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4


Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 Is also known as med4|multiple epiphyseal dysplasia, autosomal recessive|rmed|edm4|polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with bilayered patellae|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia with clubfoot

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Cleft palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4

Low match DYSTONIA, DOPA-RESPONSIVE; DRD


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

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE


Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE Is also known as spondylometaphyseal dysplasia|semd, strudwick type|smed, type i|spondylometaepiphyseal dysplasia congenita, strudwick type|semdc|smd|smed, strudwick type|strudwick syndrome|dappled metaphysis syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE

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 CHONDRODYSPLASIA, GREBE TYPE


Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).

CHONDRODYSPLASIA, GREBE TYPE Is also known as grebe chondrodysplasia|grebe dysplasia|achondrogenesis, brazilian|acromesomelic dysplasia, grebe type|amdg|achondrogenesis, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA, GREBE TYPE

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

Top 5 symptoms//phenotypes associated to Arthritis and Talipes

Symptoms // Phenotype % cases
Talipes equinovarus Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Hyperlordosis Kyphosis Flexion contracture Rigidity Brachydactyly Gait disturbance Hernia Hypertelorism Cleft palate Rheumatoid arthritis Flat face Generalized hypotonia Metatarsus adductus Inguinal hernia

Rare Symptoms - Less than 30% cases


Obsessive-compulsive behavior Torticollis Postural tremor Horizontal nystagmus Brisk reflexes Pain Anxiety Abnormality of extrapyramidal motor function Bradykinesia Parkinsonism Sleep disturbance Hypothyroidism Gait ataxia Pes cavus Babinski sign Depressivity Lower limb hyperreflexia Abnormality of the substantia nigra Impaired vibration sensation in the lower limbs Spondyloepiphyseal dysplasia Hypertonia Severe short stature Abnormality of the knee Pectus carinatum Genu valgum Limb undergrowth Short middle phalanx of finger Metaphyseal irregularity Limb dystonia Arthralgia Paresis of extensor muscles of the big toe Transient hyperphenylalaninemia Decreased CSF homovanillic acid Progressive flexion contractures Focal dystonia Generalized dystonia Hypertension Fatigue Platyspondyly Abnormality of epiphysis morphology Umbilical hernia Short tibia Muscle weakness Micrognathia Short thorax Coxa vara Spina bifida occulta Hip dislocation Retinal detachment Micromelia Nystagmus Myopia Short neck Glaucoma Skeletal dysplasia Pes planus Rocker bottom foot Hallux valgus Paresthesia Hydrops fetalis Prolonged neonatal jaundice Hypoplasia of the ulna Heart murmur Hypoplasia of the radius Abnormality of the skull Recurrent upper respiratory tract infections Disproportionate short-limb short stature Aortic regurgitation Syringomyelia Hirsutism Short phalanx of finger Abnormality of the ribs Postaxial hand polydactyly Lipoma Hepatosplenomegaly Macroglossia Short foot Postaxial polydactyly Polydactyly Jaundice Sacral lipoma Edema Spinal deformities Rectal fistula Cloacal exstrophy Sirenomelia Hemisacrum Dermoid cyst Fibular hypoplasia Exstrophy Rectal abscess Absence of the sacrum Clubbing of toes Cyclopia Mottled pigmentation Lower limb undergrowth Bladder exstrophy Abnormality of the skeletal system Teratoma Deviation of finger Urinary retention Neurogenic bladder Abnormal cortical bone morphology Abnormality of tibia morphology Chronic constipation Anterior sacral meningocele Maternal diabetes Sacral meningocele Presacral teratoma Hydromyelia Meningocele Growth delay Short humerus Deeply set eye Dysostosis multiplex Hypoplasia of the brainstem Blepharophimosis Small for gestational age Arthrogryposis multiplex congenita Dental malocclusion Underdeveloped nasal alae Abnormality of the skin Intellectual disability, profound Joint contracture of the hand Knee flexion contracture Adducted thumb Nasal speech Pterygium Congenital contracture Mask-like facies Camptodactyly Hip contracture Atrophy/Degeneration affecting the brainstem Distal arthrogryposis Malignant hyperthermia Trismus Breech presentation Dimple chin Overbite Flexion contracture of toe Abnormal auditory evoked potentials Ulnar deviation of the hand or of fingers of the hand Shoulder flexion contracture Whistling appearance Postnatal growth retardation Telecanthus Short femur Cryptorchidism Short 1st metacarpal Constrictive median neuropathy Aplasia/Hypoplasia of the patella Pes valgus Aplasia/Hypoplasia involving the metacarpal bones Short digit Acromesomelia Aplasia/Hypoplasia of metatarsal bones Valgus hand deformity Seizures Microcephaly Failure to thrive Strabismus Ptosis Transposition of the great arteries High palate Epicanthus Wide nasal bridge Fever Myopathy Cerebellar atrophy Short nose Long philtrum Malar flattening Prominent forehead Narrow mouth Mandibular prognathia Kyphoscoliosis Joint swelling Abnormality of the metaphysis Hyperostosis Knee pain Clinodactyly of the 5th finger Small hand Short metacarpal Hip dysplasia Growth abnormality Epiphyseal dysplasia Mild short stature Bilateral talipes equinovarus Short finger Multiple epiphyseal dysplasia Flat capital femoral epiphysis Hip subluxation Limited elbow flexion Muscular hypotonia Hypoplasia of the femoral head Abnormality of the patella Double-layered patella Spasticity Motor delay Hyperreflexia Tremor Behavioral abnormality Dystonia Encephalopathy Difficulty walking Irritability Clinodactyly Ataxia Spastic paraplegia Joint hypermobility Abnormality of the foot Calcaneovalgus deformity Equinus calcaneus Cataract Broad forehead Narrow chest Limitation of joint mobility Depressed nasal bridge Osteoporosis Gastroesophageal reflux Joint laxity Joint hyperflexibility Bruising susceptibility Subcutaneous hemorrhage Recurrent fractures Blue sclerae Congenital hip dislocation Wormian bones Joint dislocation Delayed gross motor development Hyperextensible skin Atrophic scars Fragile skin Soft skin Hyperextensibility of the finger joints Poor wound healing Excessive wrinkled skin Abnormal pyramidal sign Abnormality of movement Tracheoesophageal fistula Diabetes mellitus Spondyloepimetaphyseal dysplasia Anterior rib cupping Hypoplastic pubic bone Narrow greater sacrosciatic notches Delayed pubic bone ossification C1-C2 subluxation Club-shaped proximal femur Metaphyseal dappling Ventricular septal defect Headache Patent ductus arteriosus Constipation Joint stiffness Hypoplasia of the odontoid process Anal atresia Urinary incontinence Eczema Omphalocele Large fontanelles Situs inversus totalis Spina bifida Meningitis Type I diabetes mellitus Holoprosencephaly Abnormality of the genitourinary system Back pain Delayed epiphyseal ossification Protuberant abdomen Paraplegia Oromandibular dystonia Confusion Abnormal cerebellum morphology Involuntary movements Cerebral palsy Dysphonia Spastic diplegia Gaze-evoked nystagmus Resting tremor Hyperactive deep tendon reflexes Upper motor neuron dysfunction Torsion dystonia Parkinsonism with favorable response to dopaminergic medication Writer's cramp Disproportionate short stature Axial dystonia Infantile encephalopathy Obsessive-compulsive trait Fixed facial expression Respiratory distress Osteopenia Increased bone mineral density Hemangioma Short long bone Genu varum Abnormality of the urinary system Short femoral neck Abnormality of the sternum Chin with H-shaped crease



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