Arthritis, and Arthrogryposis multiplex congenita

Diseases related with Arthritis and Arthrogryposis multiplex congenita

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


Top matches:

Medium match METATROPIC DYSPLASIA


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

Medium 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

Medium match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

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Other less relevant matches:

Medium match DIASTROPHIC DWARFISM


Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

Low match CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME


Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.

CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME Is also known as fibrosing serositis, familial|hypertrophic synovitis, congenital familial|pac syndrome|camptodactyly-arthropathy-pericarditis syndrome|arthropathy-camptodactyly syndrome|cacp syndrome|jacobs syndrome|pericarditis-arthropathy-camptodactyly syndrome|cap syn

Related symptoms:

  • Pain
  • Flexion contracture
  • Dyspnea
  • Arthritis
  • Camptodactyly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME

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 LETHAL CONGENITAL CONTRACTURE SYNDROME 6; LCCS6


Related symptoms:

  • Flexion contracture
  • Macrocephaly
  • Polyhydramnios
  • Arthrogryposis multiplex congenita
  • Decreased fetal movement


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 6; LCCS6

Low match CONGENITAL PREKALLIKREIN DEFICIENCY


A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease.

CONGENITAL PREKALLIKREIN DEFICIENCY Is also known as pkk deficiency|fletcher factor deficiency

Related symptoms:

  • Autoimmunity
  • Arthrogryposis multiplex congenita
  • Abnormal bleeding
  • Prolonged partial thromboplastin time
  • Graves disease


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL PREKALLIKREIN DEFICIENCY

Low match LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3


Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3 Is also known as lccs3|multiple contracture syndrome, israeli bedouin type b

Related symptoms:

  • Flexion contracture
  • Skeletal muscle atrophy
  • Respiratory insufficiency
  • Edema
  • Arthrogryposis multiplex congenita


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3

Low match LETHAL CONGENITAL CONTRACTURE SYNDROME 11; LCCS11


Related symptoms:

  • Flexion contracture
  • Talipes equinovarus
  • Polyhydramnios
  • Retrognathia
  • Camptodactyly


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 11; LCCS11

Top 5 symptoms//phenotypes associated to Arthritis and Arthrogryposis multiplex congenita

Symptoms // Phenotype % cases
Flexion contracture Very Common - Between 80% and 100% cases
Kyphoscoliosis Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Congenital contracture Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Talipes equinovarus Short stature Camptodactyly Mitral regurgitation Mitral valve prolapse Hearing impairment Retrognathia High palate Micrognathia Hypertelorism Pain Osteoarthritis Generalized hypotonia Cleft palate Midface retrusion Kyphosis

Rare Symptoms - Less than 30% cases


Low-set, posteriorly rotated ears Inguinal hernia Ectopia lentis Talipes Small for gestational age Decreased muscle mass Reduced subcutaneous adipose tissue Abnormality of the sternum Deeply set eye Glaucoma Aortic root aneurysm Malar flattening Aortic regurgitation Aortic dissection Myopathy Spondylolisthesis Joint stiffness Ptosis Cryptorchidism Muscle weakness Strabismus Dental malocclusion Joint contracture of the hand Prominent forehead Overbite Hernia Dilatation Downslanted palpebral fissures Muscular hypotonia Growth delay Pes planus Edema Pectus carinatum Dolichocephaly Flexion contracture of toe Arachnodactyly Exotropia Long face Joint hypermobility Hip contracture Rocker bottom foot Overgrowth Cataract Depressed nasal bridge Pterygium Blue sclerae Tall stature Severe short stature Graves disease Pectus excavatum Abnormality of cardiovascular system morphology Fetal akinesia sequence Abnormal joint morphology Short finger Multiple joint contractures Chest pain Elbow flexion contracture Akinesia Abnormality of the foot Polyhydramnios Abnormal form of the vertebral bodies Abnormality of the metaphysis Interphalangeal joint contracture of finger Hypoplastic cervical vertebrae Macrocephaly Skeletal dysplasia Camptodactyly of finger Limb undergrowth Peripheral axonal neuropathy Intellectual disability Decreased fetal movement Abnormality of the ribs Micromelia Hitchhiker thumb Cervical kyphosis Neonatal short-limb short stature Congestive heart failure Digital flexor tenosynovitis Generalized morning stiffness Spinal deformities Peripheral neuropathy Ulnar deviation of the wrist Myopia Glabellar hemangioma Abnormality of the skeletal system Flattened epiphysis Irregular epiphyses Pleuritis Laryngotracheal stenosis Exertional dyspnea Iridocyclitis Hip pain Wrist flexion contracture Synovitis Juvenile rheumatoid arthritis Ulnar deviation of the hand Uveitis Constrictive pericarditis Visceral angiomatosis Pericarditis Serositis Arthropathy Congenital finger flexion contractures Pericardial effusion Costal cartilage calcification Cutis marmorata Coxa magna Flattened metatarsal heads Pleural effusion Coxa vara Lethal skeletal dysplasia Abdominal distention Flattened metacarpal heads Skin rash Dyspnea Hypertrophic auricular cartilage Clinodactyly Pericardial constriction Cystic lesions of the pinnae Synovial hypertrophy Narrow palate Visual loss Thoracic aortic aneurysm Hypopnea Premature osteoarthritis Protrusio acetabuli Dural ectasia Tricuspid valve prolapse Endocarditis Ascending tubular aorta aneurysm Hypertropia Hypoplasia of the musculature Pneumothorax Homocystinuria Low back pain Pulmonary edema Genu recurvatum Thoracic kyphosis Flat cornea Microspherophakia Meningocele Inferior oblique muscle overaction Pulmonary hypoplasia Multiple pterygia Neurogenic bladder Skeletal muscle atrophy Prolonged partial thromboplastin time Abnormal bleeding Autoimmunity Medial rotation of the medial malleolus Cystic medial necrosis Mitral annular calcification Pulmonary artery dilatation Incisional hernia Increased axial length of the globe Anisometropia Overjet Spontaneous pneumothorax Obstructive sleep apnea Arachnoid cyst Arrhythmia Polyneuropathy Amblyopia Dental crowding Decreased body weight Abnormal lung morphology Cardiomegaly Abnormality of the cardiovascular system Esotropia Retinal detachment Spontaneous abortion High, narrow palate Stroke Hyperlordosis Apnea Joint laxity Gastroesophageal reflux Pes cavus Narrow face Large earlobe Hypoplasia of the iris Open bite Subarachnoid hemorrhage Megalocornea Dilatation of the cerebral artery Striae distensae Slender finger Restrictive ventilatory defect Disproportionate tall stature Emphysema Sleep apnea Large for gestational age Epiphora Hammertoe Heart murmur Aortic aneurysm Redundant skin Back pain Symphalangism affecting the phalanges of the hand Hiatus hernia Thoracic dysplasia Short nose Dumbbell-shaped metaphyses Halberd-shaped pelvis Hyperplasia of the femoral trochanters Absent primary metaphyseal spongiosa Seizures Microcephaly Failure to thrive Epicanthus Wide nasal bridge Fever Short neck Cerebellar atrophy Hypertonia Long philtrum Abnormal metaphyseal vascular invasion Narrow mouth Mandibular prognathia Telecanthus Postnatal growth retardation Blepharophimosis Hip dislocation Flat face Underdeveloped nasal alae Abnormality of the skin Intellectual disability, profound Knee flexion contracture Spina bifida occulta Adducted thumb Nasal speech Long coccyx Relatively short spine Hypoplasia of the brainstem Flared iliac wings Brachydactyly Hydrocephalus Clinodactyly of the 5th finger Respiratory failure High forehead Platyspondyly Narrow chest Confusion Short ribs Epiphyseal dysplasia Hypoplasia of the odontoid process Aplasia/Hypoplasia of the lungs Abnormal cortical bone morphology Enlarged joints Snail-like ilia Spondylometaphyseal dysplasia Rough bone trabeculation Thoracic kyphoscoliosis Long thorax Abnormality of the intervertebral disk Caudal appendage Pseudoarthrosis Severe platyspondyly Cervical instability Abnormal enchondral ossification Anisospondyly Flared femoral metaphysis Short diaphyses Flared humeral metaphysis Rheumatoid arthritis Mask-like facies Spinal cord compression Abnormality of epiphysis morphology Increased arm span Abnormal facial shape Intrauterine growth retardation Obesity Abnormal heart morphology Pneumonia Recurrent respiratory infections Arthralgia Joint hyperflexibility Full cheeks Hip dysplasia Cerebral calcification Bowing of the long bones Short phalanx of finger Bilateral coxa valga Increased bone mineral density Hoarse voice Joint dislocation Abnormality of the outer ear Abnormality of the metacarpal bones Disproportionate short-limb short stature Short long bone Hyperextensible skin Elbow dislocation Overfolded helix Proximal placement of thumb Ulnar deviation of finger Overweight Abnormality of the clavicle Cervical spine instability Arterial dissection Atrophy/Degeneration affecting the brainstem Proptosis Distal arthrogryposis Malignant hyperthermia Trismus Breech presentation Dimple chin Abnormal auditory evoked potentials Ulnar deviation of the hand or of fingers of the hand Shoulder flexion contracture Whistling appearance Chin with H-shaped crease Motor delay Ventricular septal defect Hyporeflexia Brachycephaly Neonatal hypotonia Ascending aortic dissection Abnormal cardiac septum morphology Smooth philtrum Bruising susceptibility Bifid uvula Syncope Atrioventricular block Patent foramen ovale Cerebral hemorrhage Celiac disease Long palpebral fissure Soft skin Broad face Cleft soft palate Arterial tortuosity Bilateral talipes equinovarus



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