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.
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.
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SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about ABSENCE DEFORMITY OF LEG-CATARACT SYNDROMEAutosomal 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
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SOURCES: OMIM ORPHANET MENDELIAN
More info about AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENTMultiple 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
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SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPESpondyloepiphyseal 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
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ACROGERIA Is also known as acrometageria|metageria|acrogeria, gottron type|gottron syndrome
Related symptoms:
SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about ACROGERIA
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
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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
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SOURCES: OMIM ORPHANET MENDELIAN
More info about DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROMENail-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
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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:
SOURCES: OMIM ORPHANET MENDELIAN
More info about STICKLER SYNDROME TYPE 3Symptoms // 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 |
Patients with Cataract and Skeletal dysplasia. may also develop some of the following symptoms:
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