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 SYNDROMELow 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 DETACHMENTLow 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
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 ACROGERIALow match STICKLER SYNDROME TYPE 1
Related symptoms:
- Intellectual disability
- Sensorineural hearing impairment
- Cleft palate
- Cataract
- Myopia
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
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 SYNDROMELow 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
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 3Top 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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