Cataract, and Skeletal dysplasia

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.

• Scoliosis
• Cataract
• Visual impairment
• Hyperlordosis
• Paralysis

SOURCES: OMIM ORPHANET MESH MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

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

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

SOURCES: MESH OMIM ORPHANET MENDELIAN

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

• Short stature
• Hearing impairment
• Scoliosis
• Hypertelorism
• Nystagmus

SOURCES: ORPHANET MENDELIAN

Low match ACROGERIA

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

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

SOURCES: MESH OMIM ORPHANET MENDELIAN

Low match STICKLER SYNDROME TYPE 1

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

SOURCES: ORPHANET MENDELIAN

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

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

SOURCES: ORPHANET MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

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

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

SOURCES: ORPHANET MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN