Arthritis, and Talipes equinovarus

Diseases related with Arthritis and Talipes equinovarus

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


Top matches:

Medium 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

Medium 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

Medium 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:

Medium 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

Medium 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

Medium 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

Medium 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 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

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Top 5 symptoms//phenotypes associated to Arthritis and Talipes equinovarus

Symptoms // Phenotype % cases
Scoliosis Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Kyphosis Hyperlordosis Cleft palate Hypertelorism Gait disturbance Flexion contracture Generalized hypotonia Flat face Hernia Muscle weakness Short thorax Coxa vara Hip dislocation Brachydactyly Hypertension Rigidity Rheumatoid arthritis Spondyloepiphyseal dysplasia Inguinal hernia Severe short stature Pectus carinatum Genu valgum Limb undergrowth Abnormality of epiphysis morphology Pain Myopia Glaucoma Micromelia Platyspondyly Nystagmus Metatarsus adductus Talipes Retinal detachment Skeletal dysplasia Short neck

Rare Symptoms - Less than 30% cases


Focal dystonia Generalized dystonia Limb dystonia Impaired vibration sensation in the lower limbs Lower limb hyperreflexia Obsessive-compulsive behavior Postural tremor Decreased CSF homovanillic acid Cataract Torticollis Horizontal nystagmus Abnormality of extrapyramidal motor function Bradykinesia Progressive flexion contractures Limitation of joint mobility Transient hyperphenylalaninemia Short middle phalanx of finger Hypertonia Malar flattening Respiratory distress Short tibia Rocker bottom foot Abnormality of the metaphysis Metaphyseal irregularity Abnormality of the substantia nigra Genu varum Growth abnormality Disproportionate short stature Hypoplasia of the odontoid process Parkinsonism Paresis of extensor muscles of the big toe Muscular hypotonia Brisk reflexes Sleep disturbance Delayed pubic bone ossification Umbilical hernia Anxiety Paresthesia Broad forehead Micrognathia Polydactyly Narrow chest Hallux valgus Growth delay Pes planus Hypothyroidism Gait ataxia Pes cavus Babinski sign Fatigue Depressivity Short nose Prolonged neonatal jaundice Myopathy Hypoplasia of the ulna Heart murmur Cerebellar atrophy Telecanthus Neonatal short-trunk short stature Deeply set eye Blepharophimosis Prominent forehead Limitation of knee mobility Postnatal growth retardation Narrow mouth Mandibular prognathia Kyphoscoliosis Camptodactyly Long philtrum Short femur Short humerus Aplasia/Hypoplasia of the patella Microcephaly Arthrogryposis multiplex congenita Seizures Valgus hand deformity Aplasia/Hypoplasia of metatarsal bones Acromesomelia Short digit Aplasia/Hypoplasia involving the metacarpal bones Pes valgus Failure to thrive Fever Constrictive median neuropathy Strabismus Short 1st metacarpal Cryptorchidism Ptosis High palate Dysostosis multiplex Epicanthus Fibular hypoplasia Wide nasal bridge Small for gestational age Abnormal auditory evoked potentials Dental malocclusion Back pain Autoimmunity Retinal degeneration Recurrent upper respiratory tract infections Pulmonary hypoplasia Waddling gait High myopia Lumbar hyperlordosis Abnormal lung morphology Abnormal form of the vertebral bodies Rhizomelia Sleep apnea Bowing of the legs Apnea Vestibular dysfunction Restrictive ventilatory defect Progressive sensorineural hearing impairment Vitreoretinopathy Barrel-shaped chest Ovoid vertebral bodies Myelopathy Limited elbow movement Flattened epiphysis Cervical myelopathy Limited hip movement Retinoschisis Respiratory tract infection Midface retrusion Underdeveloped nasal alae Atrophy/Degeneration affecting the brainstem Abnormality of the skin Intellectual disability, profound Joint contracture of the hand Knee flexion contracture Spina bifida occulta Adducted thumb Nasal speech Pterygium Congenital contracture Hypoplasia of the brainstem Mask-like facies Hip contracture Distal arthrogryposis Congestive heart failure Malignant hyperthermia Trismus Breech presentation Dimple chin Overbite Flexion contracture of toe Ulnar deviation of the hand or of fingers of the hand Shoulder flexion contracture Whistling appearance Chin with H-shaped crease Sciatica Sensorineural hearing impairment Hypoplasia of the radius Infantile encephalopathy Disproportionate short-limb short stature Flat capital femoral epiphysis Arthralgia Small hand Short metacarpal Hip dysplasia Epiphyseal dysplasia Mild short stature Bilateral talipes equinovarus Short finger Multiple epiphyseal dysplasia Abnormality of the knee Hip subluxation Clinodactyly Knee pain Limited elbow flexion Hypoplasia of the femoral head Abnormality of the patella Double-layered patella Spasticity Motor delay Hyperreflexia Tremor Behavioral abnormality Clinodactyly of the 5th finger Ataxia Encephalopathy Recurrent fractures Abnormality of the foot Calcaneovalgus deformity Equinus calcaneus Depressed nasal bridge Osteoporosis Gastroesophageal reflux Joint laxity Joint hyperflexibility Joint hypermobility Bruising susceptibility Blue sclerae Subcutaneous hemorrhage 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 Dystonia Difficulty walking Aortic regurgitation Abnormality of the skeletal system Abnormality of the sternum Protuberant abdomen Delayed epiphyseal ossification Spondyloepimetaphyseal dysplasia Anterior rib cupping Hypoplastic pubic bone Narrow greater sacrosciatic notches C1-C2 subluxation Club-shaped proximal femur Metaphyseal dappling Edema Abnormality of the urinary system Jaundice Hepatosplenomegaly Hirsutism Postaxial polydactyly Short foot Macroglossia Postaxial hand polydactyly Abnormality of the ribs Short phalanx of finger Hydrops fetalis Short femoral neck Short long bone Irritability Gaze-evoked nystagmus Abnormal pyramidal sign Spastic paraplegia Abnormality of movement Paraplegia Confusion Abnormal cerebellum morphology Involuntary movements Cerebral palsy Dysphonia Spastic diplegia Resting tremor Hemangioma Hyperactive deep tendon reflexes Upper motor neuron dysfunction Torsion dystonia Parkinsonism with favorable response to dopaminergic medication Oromandibular dystonia Writer's cramp Axial dystonia Obsessive-compulsive trait Fixed facial expression Osteopenia Increased bone mineral density Delayed calcaneal ossification



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