Cataract, and Genu valgum
Diseases related with Cataract and Genu valgum
In the following list you will find some of the most common rare diseases related to Cataract and Genu valgum that can help you solving undiagnosed cases.
Top matches:
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
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
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
Too many results?
We can help you with your rare disease diagnosis.
Learn more
Other less relevant matches:
X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).
X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME
Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.
CLASSIC HOMOCYSTINURIA Is also known as cystathionine beta-synthase deficiency|homocystinuria due to cystathionine beta-synthase deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Scoliosis
- Cataract
- High palate
SOURCES:
ORPHANET
MENDELIAN
More info about CLASSIC HOMOCYSTINURIA
Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type
Related symptoms:
- Intellectual disability
- Short stature
- Generalized hypotonia
- Hearing impairment
- Scoliosis
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC
Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.
BETA-THALASSEMIA MAJOR Is also known as cooley anemia|mediterranean anemia
Related symptoms:
- Hearing impairment
- Muscle weakness
- Cataract
- Anemia
- Feeding difficulties
SOURCES:
ORPHANET
MENDELIAN
More info about BETA-THALASSEMIA MAJOR
Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.
Related symptoms:
- Short stature
- Hearing impairment
- Hypertelorism
- Nystagmus
- Micrognathia
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about MARSHALL SYNDROME
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.
CODAS SYNDROME Is also known as cerebral, ocular, dental, auricular, and skeletal anomalies syndrome|cerebrooculodentoauriculoskeletal syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
MESH
OMIM
MENDELIAN
More info about CODAS SYNDROME
Top 5 symptoms//phenotypes associated to Cataract and Genu valgum
Symptoms // Phenotype |
% cases |
Hearing impairment |
Common - Between 50% and 80% cases
|
Short stature |
Common - Between 50% and 80% cases
|
Myopia |
Common - Between 50% and 80% cases
|
Scoliosis |
Uncommon - Between 30% and 50% cases
|
Sensorineural hearing impairment |
Uncommon - Between 30% and 50% cases
|
Accelerate your rare disease diagnosis with us
Learn more
Other less frequent symptoms
Patients with Cataract and Genu valgum. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Retinal detachment
Flat face
Skeletal dysplasia
Nystagmus
Intellectual disability
Spondyloepiphyseal dysplasia
Cleft palate
Depressed nasal bridge
Vitreoretinopathy
Platyspondyly
Malar flattening
Micrognathia
Glaucoma
Abnormality of epiphysis morphology
Abnormality of the skeletal system
Epiphyseal dysplasia
Kyphosis
Hip dislocation
Amblyopia
Seizures
Congenital cataract
Generalized hypotonia
Visual impairment
High palate
Epicanthus
Hypertension
Abnormality of the dentition
Osteoarthritis
Rare Symptoms - Less than 30% cases
Paresthesia
Venous thrombosis
Hip dysplasia
Short nose
Broad forehead
Hypertelorism
Congenital hip dislocation
Global developmental delay
Muscle weakness
Anteverted nares
Short neck
Gait disturbance
Muscular hypotonia
Delayed speech and language development
Ectopia lentis
Low-set ears
Strabismus
Midface retrusion
Pneumonia
Growth delay
Microcephaly
Progressive sensorineural hearing impairment
Flexion contracture
Sparse scalp hair
Elevated hepatic transaminase
Hepatomegaly
Nyctalopia
Hypoplasia of the odontoid process
Abnormal vitreous humor morphology
Hernia
Osteoporosis
Brachydactyly
Narrow mouth
Conductive hearing impairment
Drooling
Short phalanx of finger
Depressivity
Coxa valga
Pectus carinatum
Abnormal form of the vertebral bodies
High myopia
Long philtrum
Arthralgia
Psychosis
Joint hyperflexibility
Hypersplenism
Brachycephaly
Hyperhidrosis
Otitis media
Sparse hair
Wide nasal bridge
Esotropia
Monochromacy
Hypoplasia of the maxilla
Frontal bossing
Ectodermal dysplasia
Bifid uvula
Proptosis
Malar prominence
Hypotrichosis
Abnormal hemoglobin
Pulmonary arterial hypertension
Abnormality of the hypothalamus-pituitary axis
Jaundice
Delayed pubic bone ossification
Sciatica
Neonatal short-trunk short stature
Limitation of knee mobility
Delayed calcaneal ossification
Anemia
Feeding difficulties
Fever
Cardiomyopathy
Arrhythmia
Upslanted palpebral fissure
Diabetes mellitus
Hypothyroidism
Dyspnea
Anxiety
Neoplasm of the liver
Abnormality of the thorax
Cardiorespiratory arrest
Abnormality of the skull
Increased serum ferritin
Hypoparathyroidism
Microcytic anemia
Adrenal insufficiency
Cholelithiasis
Pallor
Skin ulcer
Thick lower lip vermilion
Neutropenia
Cirrhosis
Delayed puberty
Malabsorption
Cerebral calcification
Small distal femoral epiphysis
Recurrent otitis media
Abnormality of pelvic girdle bone morphology
Metaphyseal dysplasia
Atrioventricular canal defect
Hydroureter
Abnormality of dental morphology
Proximal placement of thumb
Overfolded helix
Bilateral ptosis
CNS hypomyelination
Prominent metopic ridge
Short long bone
Short chin
Abnormality of dental enamel
Hypoplasia of dental enamel
Omphalocele
Microdontia
Short metacarpal
Short humerus
Delayed epiphyseal ossification
Delayed eruption of teeth
Lumbar scoliosis
Laryngeal obstruction
Extrahepatic biliary duct atresia
Crumpled ear
Broad skull
Hypoplastic helices
Squared iliac bones
Hemiatrophy
Midline defect of the nose
Rectovaginal fistula
Vocal cord paresis
Pes valgus
Delayed ossification of carpal bones
Thin eyebrow
Coronal cleft vertebrae
Complete atrioventricular canal defect
Abnormality of the larynx
Generalized muscle weakness
Anal atresia
Hypohidrosis
Thick upper lip vermilion
Hypoplastic frontal sinuses
Absent frontal sinuses
Lens luxation
Ulnar bowing
Anhidrotic ectodermal dysplasia
Concave nasal ridge
Hypoplastic ilia
Hypoplasia of the zygomatic bone
Macrodontia of permanent maxillary central incisor
Radial bowing
Pierre-Robin sequence
Aplasia cutis congenita
Thickened calvaria
Sparse eyebrow
Sparse eyelashes
Sparse and thin eyebrow
Calcification of falx cerebri
Irregular proximal tibial epiphyses
Hypermetropia
Ventriculomegaly
Short philtrum
Abnormality of the pinna
Intellectual disability, moderate
Polyhydramnios
Delayed skeletal maturation
Atrial septal defect
Hypoplasia of the corpus callosum
Ventricular septal defect
Irregular distal femoral epiphysis
Ptosis
Cryptorchidism
Abnormal facial shape
Limited hip movement
Meningeal calcification
Small proximal tibial epiphyses
Wide tufts of distal phalanges
Retinoschisis
Polydactyly
Cervical myelopathy
Gait ataxia
Cervical spinal canal stenosis
Periarticular subcutaneous nodules
Ataxia
Spasticity
Hyperreflexia
Macrocephaly
Tremor
Intellectual disability, severe
Dystonia
Intellectual disability, mild
Absent speech
Encephalopathy
Babinski sign
Pes cavus
Macrotia
Thoracic kyphoscoliosis
Abnormality of extrapyramidal motor function
Spastic gait
Postnatal microcephaly
Clumsiness
Choreoathetosis
Spastic tetraplegia
Apraxia
Parkinsonism
EEG abnormality
Tetraplegia
Small hand
Paraplegia
Spastic paraplegia
Abnormal pyramidal sign
Muscular hypotonia of the trunk
Multiple skeletal anomalies
Prelingual sensorineural hearing impairment
Spastic paraparesis
Asteroid hyalosis
Blindness
Retrognathia
Epiphora
Premature osteoarthritis
Rhegmatogenous retinal detachment
Posterior vitreous detachment
Erosive vitreoretinopathy
Membranous vitreous appearance
Short palm
Round face
Anonychia
Retinal dysplasia
Multiple epiphyseal dysplasia
Retinal thinning
Astigmatism
Fasting hypoglycemia
Sensory neuropathy
Achalasia
Spinal canal stenosis
Sensorimotor neuropathy
Bilateral sensorineural hearing impairment
Growth hormone deficiency
Sensory impairment
Distal sensory impairment
Irregular vertebral endplates
Thick eyebrow
Osteopenia
Prominent forehead
Hyporeflexia
Peripheral neuropathy
Motor delay
Paraparesis
Progressive spasticity
Flattened epiphysis
Abnormal lung morphology
Severe short stature
Arthritis
Apnea
Hyperlordosis
Respiratory tract infection
Autoimmunity
Narrow chest
Micromelia
Retinal degeneration
Pulmonary hypoplasia
Limitation of joint mobility
Waddling gait
Limb undergrowth
Lumbar hyperlordosis
Abnormality of the metaphysis
Respiratory distress
Short thorax
Limited elbow movement
Myelopathy
Ovoid vertebral bodies
Barrel-shaped chest
Disproportionate short stature
Restrictive ventilatory defect
Vestibular dysfunction
Rhizomelia
Bowing of the legs
Back pain
Genu varum
Growth abnormality
Sleep apnea
Coxa vara
Congestive heart failure
Talipes equinovarus
Restlessness
Arachnodactyly
Poor coordination
Facial hypotonia
Macroorchidism
Bruxism
Shuffling gait
Slender build
Excessive salivation
Progressive spastic paraparesis
Mania
Juvenile cataract
Optic atrophy
Behavioral abnormality
Pectus excavatum
Joint stiffness
Recurrent fractures
Pain
Pulmonary embolism
Abnormality of amino acid metabolism
Subcutaneous hemorrhage
Arterial thrombosis
Cerebral ischemia
Esophageal varix
Arteriovenous malformation
Disproportionate tall stature
Gastrointestinal hemorrhage
Hemiplegia/hemiparesis
Intracranial hemorrhage
Urticaria
Abnormality of retinal pigmentation
Anorexia
Dental crowding
Absent epiphyses
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Fever and Aortic valve stenosis, related diseases and genetic alterations
Macrocephaly and Midface retrusion, related diseases and genetic alterations
Hydrocephalus and Intrauterine growth retardation, related diseases and genetic alterations
Immunodeficiency and Pancytopenia, related diseases and genetic alterations
Micrognathia and Lymphadenopathy, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
Learn more