Flexion contracture, and Joint stiffness

Diseases related with Flexion contracture and Joint stiffness

In the following list you will find some of the most common rare diseases related to Flexion contracture and Joint stiffness that can help you solving undiagnosed cases.

Top matches:

Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.

METAPHYSEAL ANADYSPLASIA Is also known as maroteaux-verloes-stanescu syndrome|regressive metaphyseal dysplasia

Related symptoms:

  • Short stature
  • Joint stiffness
  • Abnormality of the metaphysis
  • Bowing of the long bones
  • Abnormality of epiphysis morphology


SOURCES: ORPHANET MENDELIAN

More info about METAPHYSEAL ANADYSPLASIA

Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term).

DIGITOTALAR DYSMORPHISM Is also known as ulnar drift, hereditary|da1|distal arthrogryposis type 1|da1a

Related symptoms:

  • Flexion contracture
  • Talipes equinovarus
  • Narrow mouth
  • Camptodactyly
  • Joint stiffness


SOURCES: ORPHANET OMIM MENDELIAN

More info about DIGITOTALAR DYSMORPHISM

Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.

ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME Is also known as distal arthrogryposis with ophthalmoplegia|distal arthrogryposis type 5|oculomelic amyoplasia|distal arthrogryposis type iib

Related symptoms:

  • Ptosis
  • Visual impairment
  • Optic atrophy
  • Pectus excavatum
  • Inguinal hernia


SOURCES: ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME

Other less relevant matches:

Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.

BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME Is also known as brachydactyly-joint dysplasia syndrome|liebenberg syndrome|brachydactyly with joint dysplasia|synostosis, carpal, with dysplastic elbow joints and brachydactyly

Related symptoms:

  • Brachydactyly
  • Macrocephaly
  • Talipes equinovarus
  • Clinodactyly of the 5th finger
  • Camptodactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME

Low match MELORHEOSTOSIS

Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

MELORHEOSTOSIS Is also known as mel

Related symptoms:

  • Failure to thrive
  • Pain
  • Flexion contracture
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MELORHEOSTOSIS

In general, the distal arthrogryposes are a group of disorders characterized by contractures mainly involving the distal parts of the limbs. The hands have a characteristic position with medially overlapping fingers, clenched fists, ulnar deviation of fingers, and camptodactyly, and the feet have deformities. Contractures at other joints are variable; there are no associated visceral anomalies, and intelligence is normal. Classically, DA was defined as being without overt neurologic or muscle disease (Lin et al., 1977 and Hall et al., 1982), although more recent evidence suggests that DA1A due to TPM2 mutations results from muscle dysfunction (Robinson et al., 2007; Mokbel et al., 2013; Davidson et al., 2013).The prototypic distal arthrogryposis is type 1 (DA1), which is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. While the pattern of affected joints is consistent, the degree to which the joints are affected is highly variable, with equinovarus deformities ranging from mild to severe and hand involvement ranging from isolated hypoplasia of the distal interphalangeal crease of the fifth digit to severely clenched fists and ulnar deviation of the wrist. The various phenotypic forms of distal arthrogryposis are classified hierarchically according to the proportion of features they share with one another and are designated DA1 through DA10 (summary by Bamshad et al., 2009).Bamshad et al. (1996) revised the classification by Hall et al. (1982) of the common mendelian arthrogryposis syndromes. Krakowiak et al. (1997) provided a useful classification of the distal arthrogryposes. Genetic Heterogeneity of Distal ArthrogryposesDistal arthrogryposis type 1 includes DA1A, caused by mutation in the TPM2 gene, and DA1B (OMIM ), caused by mutation in the MYBPC1 gene (OMIM ) on chromosome 12q23.2. Other forms include DA2A (Freeman-Sheldon syndrome, {193700}), caused by mutation in the MYH3 gene (OMIM ) on chromosome 17p13.1; DA2B (Sheldon-Hall syndrome, {601680}), caused by mutation in MYH3, the TNNT3 gene (OMIM ) on chromosome 11p15.5, the TNNI2 gene (OMIM ), also on 11p15.5, or TPM2 (OMIM ) on chromosome 9p13; DA3 (Gordon syndrome, {114300}) and DA5 (OMIM ), caused by mutation in the PIEZO2 gene (OMIM ) on chromosome 18p11; DA4 (OMIM ); DA5D (OMIM ), caused by mutation in the ECEL1 gene (OMIM ) on chromosome 2q36; DA6 (OMIM ); DA7 (OMIM ), caused by mutation in the MYH8 gene (OMIM ) on chromosome 17p13.1; DA8 (OMIM ), caused by mutation in the MYH3 gene (OMIM ) on chromosome 17p13; DA9 (OMIM ), caused by mutation in the FBN2 gene (OMIM ) on chromosome 5q23-q31; and DA10 (OMIM ), which maps to chromosome 2q.See {277720} for discussion of a possible autosomal recessive form of DA2A. See {208155} for a description of Illum syndrome, which includes 'whistling face,' central nervous system dysfunction, and calcium deposition in central nervous system and muscle.There are other forms of arthrogryposis multiplex congenita (AMC), including a lethal congenital form (see LCCS1, {253310}).

ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A Is also known as arthrogryposis multiplex congenita, distal, type i|da1|amcd1|arthrogryposis, distal, type 1

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A

Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.

AUTOSOMAL DOMINANT CONGENITAL BENIGN SPINAL MUSCULAR ATROPHY Is also known as autosomal dominant benign distal spinal muscular atrophy|spinal muscular atrophy, distal, congenital nonprogressive|dhmn8|neuropathy, distal hereditary motor, type viii|spinal muscular atrophy, congenital benign, with contractures|congenital benign spinal

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture
  • Motor delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CONGENITAL BENIGN SPINAL MUSCULAR ATROPHY

Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by Nishimura et al., 1998).

SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE Is also known as sed, stanescu type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE

Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.

MUCOLIPIDOSIS TYPE III GAMMA Is also known as ml iii gamma|mucolipidosis type 3 gamma|mucolipidosis iii, iranian variant form|ml 3 gamma|mucolipidosis iiic|ml iiic|mucolipidosis iii, complementation group c|mucolipidosis iii, variant form

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain
  • Flexion contracture


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III GAMMA

Top 5 symptoms//phenotypes associated to Flexion contracture and Joint stiffness

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Talipes equinovarus Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Bilateral talipes equinovarus Uncommon - Between 30% and 50% cases
Talipes Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Joint stiffness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Arthrogryposis multiplex congenita Kyphosis Camptodactyly Elbow flexion contracture Arthralgia Pain

Rare Symptoms - Less than 30% cases

Spondyloepiphyseal dysplasia Waddling gait Brachydactyly Genu valgum Abnormality of the foot Limb muscle weakness Myopia Hyperlordosis Pes planus Abnormality of the skeletal system Short stature Skeletal muscle atrophy Narrow mouth Rocker bottom foot Overlapping fingers Knee flexion contracture Abnormality of the ulna Joint contracture of the hand Adducted thumb Hip contracture Aplasia/Hypoplasia of the radius Spinal canal stenosis Trismus Distal arthrogryposis Spinal muscular atrophy Cachexia Stridor Dysphonia Absent distal interphalangeal creases Motor axonal neuropathy Laryngomalacia Scapular winging Lumbar hyperlordosis Peripheral neuropathy Decreased fetal movement Limitation of joint mobility Stiff shoulders Distal amyotrophy Peripheral axonal neuropathy Lower limb muscle weakness Distal muscle weakness Paralysis Proximal muscle weakness Muscular hypotonia Motor delay Elevated serum creatine phosphokinase Hyporeflexia Areflexia Pes cavus Platyspondyly Areflexia of lower limbs Cardiomegaly Hip pain Mild myopia Global developmental delay Short neck Intellectual disability, mild Coarse facial features Pectus carinatum Aortic valve stenosis Stiff neck Opacification of the corneal stroma Aortic regurgitation Abnormality of the hand Dysostosis multiplex Flared iliac wings Abnormality of the rib cage Flat capital femoral epiphysis Increased serum iduronate sulfatase activity Thoracolumbar kyphosis Hypoplastic ilia Proximal lower limb amyotrophy Osteoarthritis Vocal cord paresis Nonprogressive muscular atrophy Hearing impairment Kyphoscoliosis Difficulty walking Decreased hip abduction Unsteady gait Coxa valga Hypoplastic pelvis Short long bone Back pain Metaphyseal irregularity Flared metaphysis Vertebral fusion Abnormal joint morphology Irregular vertebral endplates Beaking of vertebral bodies Ulnar deviation of the wrist Ectopic ossification in muscle tissue Ulnar deviation of the hand or of fingers of the hand Macrocephaly Triangular face Abnormal electroretinogram Deviation of finger Dimple chin Congenital finger flexion contractures Absent palmar crease Clinodactyly of the 5th finger Ophthalmoplegia Abnormality of the fingernails Metaphyseal widening Elbow dislocation Synostosis of carpal bones Carpal synostosis Ridged nail Abnormality of the humerus Arachnodactyly Deeply set eye Joint contracture of the 5th finger Abnormality of the hip bone Abnormality of the metaphysis Bowing of the long bones Abnormality of epiphysis morphology Abnormality of the lower limb Abnormality of ulnar metaphysis Camptodactyly of finger Ulnar deviation of finger Macrotia Limb joint contracture Contractures involving the joints of the feet Ptosis Visual impairment Optic atrophy Pectus excavatum Inguinal hernia Abnormality of the carpal bones Abnormality of the distal phalanx of finger Calcaneovalgus deformity Peripheral arteriovenous fistula Atypical scarring of skin Lower limb asymmetry Lack of skin elasticity Prominent superficial veins Chronic pain Upper limb asymmetry Subcutaneous calcification Joint swelling Osteopoikilosis Cryptorchidism Hip dislocation Single transverse palmar crease Congenital hip dislocation Metatarsus adductus Hand clenching Abnormality of the vasculature Scleroderma 2-3 finger syndactyly Arthritis Long metacarpals Radially deviated wrists Failure to thrive Hypertension Edema Dilatation Skeletal dysplasia Nevus Hyperostosis Lymphedema Bone pain Increased bone mineral density Cranial nerve paralysis Hemangioma Growth abnormality Dermal atrophy Increased serum beta-hexosaminidase


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