Flexion contracture, and Skeletal dysplasia

Diseases related with Flexion contracture and Skeletal dysplasia

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

Top matches:

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

Regressive spondylometaphyseal dysplasia is a rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.

REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as regressive spondylometaphyseal dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Brachydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA

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

Other less relevant matches:

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

Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.

PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD Is also known as progressive pseudorheumatoid arthropathy of childhood|ppd|spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|sedt-pa|spondyloepiphyseal dysplasia tarda with progressive arthropathy|progressive pseudorheumatoid dysplasia

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD

Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.

CZECH DYSPLASIA, METATARSAL TYPE Is also known as pseudorheumatoid dysplasia, progressive, with hypoplastic toes|spondyloepiphyseal dysplasia with precocious osteoarthritis|czech dysplasia, metatarsal type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CZECH DYSPLASIA, METATARSAL TYPE

Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent kyknodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.

Related symptoms:

  • Short stature
  • Hypertelorism
  • Flexion contracture
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA

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

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Flexion contracture
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about MEESTER-LOEYS SYNDROME; MRLS

Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.

COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|mcops14

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Skeletal dysplasia

Symptoms // Phenotype % cases
Arthralgia Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Spondyloepiphyseal dysplasia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Platyspondyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Skeletal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Joint stiffness Kyphosis Arthritis Osteoarthritis Brachydactyly Abnormality of the skeletal system Macrocephaly Coxa vara Camptodactyly Flat capital femoral epiphysis Waddling gait Growth abnormality Short long bone Pes planus Genu valgum Metaphyseal irregularity

Rare Symptoms - Less than 30% cases

Kyphoscoliosis Rhizomelia Abnormal facial shape Stiff neck Hypoplastic ilia Irregular vertebral endplates Hyperlordosis Abnormal joint morphology Knee flexion contracture Myopia Mild short stature Difficulty walking Gait disturbance Thoracolumbar kyphosis Hearing impairment Aortic regurgitation Muscle weakness Severe short stature Prominent forehead Short neck Enlarged epiphyses Global developmental delay Genu varum Hypertelorism Cleft palate Arthropathy Dilatation Abnormality of the knee Joint swelling Abnormality of the foot Short metacarpal Protuberant abdomen Multiple epiphyseal dysplasia Disproportionate short stature Limited elbow flexion Hip subluxation Knee pain Disproportionate short-trunk short stature Hypoplasia of the femoral head Metaphyseal dysplasia Short ribs Short finger Rigidity Bilateral talipes equinovarus Epiphyseal dysplasia Small hand Clinodactyly of the 5th finger Clinodactyly Hip dysplasia Talipes equinovarus Muscular hypotonia Generalized hypotonia Abnormally ossified vertebrae Pseudoepiphyses of hand bones Abnormality of the epididymis Enchondroma Short middle phalanx of finger Delayed pubic bone ossification Abnormality of the patella Metatarsus adductus Pseudoepiphyses Failure to thrive Double-layered patella Coloboma Cataract Cryptorchidism Epicanthus Syndactyly Microphthalmia Hypospadias Pes cavus Intellectual disability, moderate Retinal detachment Nystagmus Microcornea Long eyelashes Deep philtrum Precocious puberty Chorioretinal coloboma Anophthalmia Sclerocornea Ectopia pupillae Periorbital fullness Strabismus Intellectual disability Downslanted palpebral fissures Periarticular calcification Frontal bossing Ventriculomegaly Malar flattening Proptosis Hip dislocation Joint hypermobility Bifid uvula Hypertrichosis Mitral regurgitation Cervical spine instability Gingival overgrowth Joint dislocation Relative macrocephaly Aortic aneurysm Abnormality of the sternum Striae distensae Dilatation of the cerebral artery Aortic dissection Pulmonary artery aneurysm Narrow femoral neck Abnormal form of the vertebral bodies Intervertebral space narrowing Limited elbow extension Subcutaneous calcification Osteopoikilosis Ectopic ossification in muscle tissue Microcephaly Ventricular septal defect Polydactyly Postaxial polydactyly Ovoid vertebral bodies Upper limb asymmetry Spondylometaphyseal dysplasia Hyposegmentation of neutrophil nuclei Limb muscle weakness Unsteady gait Coxa valga Back pain Flared metaphysis Peripheral arteriovenous fistula Chronic pain Spinal canal stenosis Cranial nerve paralysis Hypertension Skeletal muscle atrophy Edema Nevus Lymphedema Bone pain Increased bone mineral density Hemangioma Prominent superficial veins Dermal atrophy Hyperostosis Scleroderma Abnormality of the vasculature Atypical scarring of skin Lower limb asymmetry Lack of skin elasticity Vertebral fusion Trismus Narrow iliac wings Enlargement of the proximal femoral epiphysis Juvenile rheumatoid arthritis Synovitis Flattened epiphysis Methylmalonic acidemia Sclerotic vertebral endplates Decreased cervical spine mobility Enlarged interphalangeal joints Morbus Scheuermann Metaphyseal widening Enlarged metacarpophalangeal joints Sensorineural hearing impairment Limitation of joint mobility Short toe Short metatarsal Short femoral neck Thoracic kyphosis Rheumatoid arthritis Interphalangeal joint contracture of finger Beaking of vertebral bodies Aortic valve stenosis Hypoplastic pelvis Hip pain Mild myopia Intellectual disability, mild Coarse facial features Pectus carinatum Cardiomegaly Opacification of the corneal stroma Camptodactyly of finger Abnormality of the hand Dysostosis multiplex Flared iliac wings Abnormality of the rib cage Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Osteoporosis Monocular strabismus


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