Cataract, and Skeletal dysplasia

Diseases related with Cataract and Skeletal dysplasia

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


Top matches:

Low match ABSENCE DEFORMITY OF LEG-CATARACT SYNDROME


Absence deformity of leg ? cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.

Related symptoms:

  • Scoliosis
  • Cataract
  • Visual impairment
  • Hyperlordosis
  • Paralysis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ABSENCE DEFORMITY OF LEG-CATARACT SYNDROME

Low match AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT


Autosomal dominant rhegmatogenous retinal detachment is a rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.

AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT Is also known as stickler syndrome, type i, predominantly ocular|stickler syndrome, atypical

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Cataract
  • Visual impairment
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT

Low match MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE


Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.

MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE Is also known as multiple epiphyseal dysplasia-myopia-deafness syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Cataract
  • Brachydactyly
  • Myopia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE

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Other less relevant matches:

Low 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

Low match ACROGERIA


ACROGERIA Is also known as acrometageria|metageria|acrogeria, gottron type|gottron syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Micrognathia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ACROGERIA

Low match STICKLER SYNDROME TYPE 1


Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Low match AUTOSOMAL RECESSIVE STICKLER SYNDROME


Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome (see this term), found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms

Related symptoms:

  • Short stature
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE STICKLER SYNDROME

Low match DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME


Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).

DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME Is also known as hardcastle syndrome|myopathy, limb-girdle, with bone fragility|bone dysplasia with medullary fibrosarcoma|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome|bone dysplasia-medullary fibrosarcoma syndrome|bdmf|bone dysplasia with maligna

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Osteopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME

Low match NAIL-PATELLA SYNDROME


Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

NAIL-PATELLA SYNDROME Is also known as turner-kieser syndrome|onychoosteodysplasia

Related symptoms:

  • Hearing impairment
  • Cataract
  • Hypertension
  • Renal insufficiency
  • Glaucoma


SOURCES: ORPHANET MENDELIAN

More info about NAIL-PATELLA SYNDROME

Low match STICKLER SYNDROME TYPE 3


Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

Top 5 symptoms//phenotypes associated to Cataract and Skeletal dysplasia

Symptoms // Phenotype % cases
Myopia Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Retinal detachment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Joint hyperflexibility Short stature Abnormality of epiphysis morphology Sensorineural hearing impairment Scoliosis Genu valgum Abnormal vitreous humor morphology Flat face Micrognathia Platyspondyly Glaucoma Spondyloepiphyseal dysplasia

Rare Symptoms - Less than 30% cases


Vitreoretinopathy Mitral valve prolapse Intellectual disability Visual impairment Hyperlordosis Joint hypermobility Epiphyseal dysplasia Exostoses Malar flattening Long philtrum Thin skin Abnormality of the lower limb Arthralgia Osteomyelitis Osteomyelitis leading to amputation due to slow healing fractures Diaphyseal cortical sclerosis Stenosis of the medullary cavity of the long bones Patchy osteosclerosis Histiocytoma Bruising susceptibility Sarcoma Proximal muscle weakness Osteopenia Metaphyseal striations Presenile cataracts Premature graying of hair Fibrosarcoma Limb-girdle muscle atrophy Bowing of the legs Fractures of the long bones Myopathy Osteosarcoma Skeletal muscle atrophy Limb-girdle muscle weakness Soft skin Pathologic fracture Limb muscle weakness Joint dislocation Hypertension Pectus excavatum Aplastic/hypoplastic toenail Iliac horns Thickening of the lateral border of the scapula Depressed nasal bridge Anteverted nares Midface retrusion Retinopathy Concave nail Pectus carinatum Arachnodactyly Bifid uvula Long fingers Arthropathy Glossoptosis Pierre-Robin sequence Aplasia/Hypoplasia of the patella Ridged nail Renal insufficiency Neoplasm Proteinuria Joint stiffness Hematuria Nephropathy Nephrotic syndrome Vasculitis Abnormality of the fingernails Abnormality of the upper limb Cubitus valgus Hypoplastic toenails Glomerulopathy Joint swelling Patellar dislocation Abnormality of the elbow Abnormal toenail morphology Muscle weakness Premature skin wrinkling Irregular vertebral endplates Rhegmatogenous retinal detachment Multiple epiphyseal dysplasia Retinal dysplasia Anonychia Coxa valga Short phalanx of finger Round face Short palm Conductive hearing impairment Narrow mouth Brachydactyly Membranous vitreous appearance Erosive vitreoretinopathy Posterior vitreous detachment Premature osteoarthritis Asteroid hyalosis Epiphora Nyctalopia Retrognathia Blindness Epicanthus Duplication involving bones of the feet Progressive cataract Optic nerve dysplasia Lower limb undergrowth Abnormality of femur morphology Cranial nerve paralysis Anal atresia Congenital cataract Paralysis Retinal thinning Hypertelorism Amblyopia Dermal atrophy Astigmatism Abnormality of vertebral epiphysis morphology Hypoplasia of the maxilla Proptosis Visual loss Short nose Cigarette-paper scars Excessive wrinkled skin Irregular hyperpigmentation Prematurely aged appearance Telangiectasia of the skin Aplasia/Hypoplasia of the skin Lipoatrophy Skin ulcer Nystagmus Fine hair Convex nasal ridge Abnormality of the skin Short foot Small hand Short thorax Coxa vara Limitation of joint mobility Micromelia Narrow chest Broad forehead Kyphosis Short neck Talipes equinovarus Abnormal metacarpal morphology



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