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:

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

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

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Other less relevant matches:

Low match CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME


CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME Is also known as cagsss

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME


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

Low match CLASSIC HOMOCYSTINURIA


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

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


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

Low match BETA-THALASSEMIA MAJOR


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

Low match MARSHALL SYNDROME


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

Low match CODAS 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
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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



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