Myopia, and Joint stiffness

Diseases related with Myopia and Joint stiffness

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


Top matches:

Medium match WEILL-MARCHESANI SYNDROME 3; WMS3


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of WMS, see {277600}.

Related symptoms:

  • Short stature
  • Brachydactyly
  • Myopia
  • Joint stiffness
  • Pulmonic stenosis


SOURCES: OMIM MENDELIAN

More info about WEILL-MARCHESANI SYNDROME 3; WMS3

Medium match ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present (summary by Shah et al., 2014).For a discussion of genetic heterogeneity of Weill-Marchesani syndrome, see WMS1 (OMIM ).

ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME Is also known as wmsl|weill-marchesani-like syndrome|15q26.3 microdeletion syndrome

Related symptoms:

  • Short stature
  • Cataract
  • Brachydactyly
  • Myopia
  • Optic atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME

Low match SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE


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

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Other less relevant matches:

Low match MUCOLIPIDOSIS TYPE III GAMMA


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

Low match SJÖGREN-LARSSON SYNDROME


Sjögren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.

SJÖGREN-LARSSON SYNDROME Is also known as fatty acid alcohol oxidoreductase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about SJÖGREN-LARSSON SYNDROME

Low match GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME


Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome (see this term).

GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME Is also known as gemss|mesodermal dysmorphodystrophy, congenital|gemss syndrome|weill-marchesani syndrome, autosomal dominant|glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome|spherophakia-brachymorphia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLAUCOMA-ECTOPIA LENTIS-MICROSPHEROPHAKIA-STIFF JOINTS-SHORT STATURE SYNDROME

Low match WEILL-MARCHESANI SYNDROME 1; WMS1


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by Dagoneau et al., 2004). Genetic Heterogeneity of Weill-Marchesani SyndromeA phenotypically similar, autosomal dominant form of WMS (WMS2 ) is caused by mutation in the FBN1 gene (OMIM ) on chromosome 15q21. Autosomal recessive WMS3 (OMIM ) is caused by mutation in the LTBP2 gene (OMIM ) on chromosome 14q24. Autosomal recessive WMS4 (OMIM ) is caused by mutation in the ADAMTS17 gene (OMIM ) on chromosome 15q24.

WEILL-MARCHESANI SYNDROME 1; WMS1 Is also known as weill-marchesani syndrome, autosomal recessive|mesodermal dysmorphodystrophy, congenital|spherophakia-brachymorphia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about WEILL-MARCHESANI SYNDROME 1; WMS1

Low match JABERI-ELAHI SYNDROME; JABELS


JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Low match SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME


Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME Is also known as smd-crd

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME

Low match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Top 5 symptoms//phenotypes associated to Myopia and Joint stiffness

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


High myopia Kyphosis Microspherophakia Ectopia lentis Aortic valve stenosis Photophobia Intellectual disability, mild Visual impairment Spinal canal stenosis Depressed nasal bridge Microcephaly Glaucoma Thickened skin Pulmonic stenosis Shallow anterior chamber

Rare Symptoms - Less than 30% cases


Ventricular septal defect Misalignment of teeth Broad ribs Beaking of vertebral bodies Spasticity Thin bony cortex Broad metatarsal Seizures Global developmental delay Broad metacarpals Optic atrophy Short neck Short palm Broad skull Hyperlordosis Pectus carinatum Broad phalanges of the hand Abnormal facial shape Failure to thrive Shallow orbits Flared metaphysis Increased intraocular pressure Arthralgia Blindness Patent ductus arteriosus Hearing impairment Abnormal heart morphology Brachycephaly Pain Flexion contracture Hypoplasia of the maxilla Kyphoscoliosis Strabismus Spondyloepiphyseal dysplasia Platyspondyly Lumbar hyperlordosis Genu valgum Mitral regurgitation Waddling gait Narrow palate Abnormality of dental morphology Broad palm Proportionate short stature Metaphyseal irregularity Femoral bowing Abnormality of the elbow Abnormality of color vision Nyctalopia Brittle hair Sparse eyebrow Hand clenching Growth delay Nystagmus Microphthalmia Visual loss Severe short stature Postnatal growth retardation Coloboma Astigmatism Bowing of the legs Retinal dystrophy Dental malocclusion Short metacarpal Progressive visual loss Limb undergrowth Abnormality of the ribs Recurrent otitis media Bowing of the long bones Rhizomelia Cone/cone-rod dystrophy Metaphyseal widening Coxa vara Optic nerve coloboma Tibial bowing Anal atresia Cryptorchidism Anemia Wide nasal bridge Intrauterine growth retardation Downslanted palpebral fissures Abnormality of cardiovascular system morphology Clinodactyly of the 5th finger Macrotia Low-set, posteriorly rotated ears Severe global developmental delay Congenital cataract Webbed neck Micrognathia Convex nasal ridge Hypoplasia of penis Bilateral single transverse palmar creases Abnormality of the fingernails Polycystic ovaries Hypoplastic toenails Nuclear cataract Non-midline cleft lip Ectopic anus Microcytic anemia Iron deficiency anemia Cleft palate Hypertelorism Short finger Spondylometaphyseal dysplasia High hypermetropia Disproportionate short stature Macular atrophy Thoracic scoliosis Iris hypopigmentation Peripheral visual field loss Retinal atrophy Ovoid vertebral bodies Ectopia pupillae Increased serum ferritin Enlarged joints Metaphyseal cupping Hypoplastic inferior ilia Cone dysfunction syndrome Limited elbow movement Abnormality of macular pigmentation Abnormal autonomic nervous system physiology Decreased hip abduction Narrow greater sacrosciatic notches Retinal thinning Severe platyspondyly Cupped ribs Large central visual field defect Tibial torsion Sparse eyelashes Mitral valve prolapse Broad-based gait Aortic regurgitation Hip pain Mild myopia Abnormality of the skeletal system Coarse facial features Pes planus Cardiomegaly Opacification of the corneal stroma Abnormality of the hand Stiff neck Dysostosis multiplex Flared iliac wings Abnormality of the rib cage Flat capital femoral epiphysis Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Muscular hypotonia Dysarthria Thoracolumbar kyphosis Hypoplastic ilia Skeletal dysplasia Limb muscle weakness Exotropia Anterior synechiae of the anterior chamber Mydriasis Iridodonesis Retinal hole Phakodonesis Muscle weakness Difficulty walking Unsteady gait Hypoplastic pelvis Osteoarthritis Coxa valga Short long bone Back pain Vertebral fusion Abnormal joint morphology Irregular vertebral endplates Trismus Hyperkeratosis Erythema Choreoathetosis Protruding ear Abnormality of the dentition Dystonia Short nose Absent speech Hyporeflexia Cerebellar hypoplasia Agenesis of corpus callosum Gait ataxia Distal muscle weakness Hypoplasia of the corpus callosum Talipes Dysmetria Joint hypermobility Inability to walk Dandy-Walker malformation Generalized-onset seizure Narrow forehead Fine hair Cerebellar atrophy Talipes equinovarus Retinopathy Spastic diplegia Abnormal pyramidal sign Neurological speech impairment Dry skin Ichthyosis Abnormality of retinal pigmentation Abnormality of dental enamel Macular degeneration Urticaria Generalized hyperpigmentation Tremor Corneal erosion Inflammatory abnormality of the eye Osteoporosis Generalized hypotonia Ataxia Low-set ears Delayed speech and language development Hyperreflexia Pulverulent cataract



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