Cataract, and Recurrent fractures

Diseases related with Cataract and Recurrent fractures

In the following list you will find some of the most common rare diseases related to Cataract and Recurrent fractures that can help you solving undiagnosed cases.


Top matches:

Low match FAMILIAL EXUDATIVE VITREORETINOPATHY


Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.

FAMILIAL EXUDATIVE VITREORETINOPATHY Is also known as fevr, autosomal dominant|criswick-schepens syndrome|exudative vitreoretinopathy, familial, autosomal dominant|fevr

Related symptoms:

  • Microcephaly
  • Cataract
  • Blindness
  • Glaucoma
  • Reduced visual acuity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL EXUDATIVE VITREORETINOPATHY

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 SYNDROME

Low match PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS


Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see {300009}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS

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Other less relevant matches:

Low match OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME


Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME Is also known as oppg|osteogenesis imperfecta, ocular form|ocular form of osteogenesis imperfecta|ops

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

Low match OSTEOGENESIS IMPERFECTA TYPE 2


Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

OSTEOGENESIS IMPERFECTA TYPE 2 Is also known as osteogenesis imperfecta congenita, perinatal lethal form|osteogenesis imperfecta congenita|oi type 2|lethal osteogenesis imperfecta|oi, type ii|oic|vrolik type of osteogenesis imperfecta

Related symptoms:

  • Microcephaly
  • Cataract
  • Respiratory insufficiency
  • Congestive heart failure
  • Abnormality of the dentition


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 2

Low match CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

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 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Low match SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1


SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

Low match DYSKERATOSIS CONGENITA


Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Top 5 symptoms//phenotypes associated to Cataract and Recurrent fractures

Symptoms // Phenotype % cases
Osteoporosis Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Recurrent fractures. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Intellectual disability Osteopenia Thin skin Psychosis Skeletal muscle atrophy Abdominal pain Metaphyseal widening Generalized hirsutism Neoplasm Telangiectasia of the skin Aseptic necrosis Generalized hypotonia Nephrolithiasis Venous thrombosis Bruising susceptibility Immunodeficiency Diabetes mellitus Glaucoma Platyspondyly Visual impairment

Rare Symptoms - Less than 30% cases


Lethargy Kyphoscoliosis Bipolar affective disorder Adrenal hyperplasia Pituitary adenoma Onychomycosis Fatigue Metrorrhagia Abnormality of the dentition Scoliosis Hepatomegaly Myopia Failure to thrive Generalized hyperpigmentation Menorrhagia Truncal obesity Anxiety Acne Premature ovarian insufficiency Lipodystrophy Hypokalemia Recurrent skin infections Cardiomyopathy Global developmental delay Increased susceptibility to fractures Round face Headache Infertility Depressivity Visual loss Sleep disturbance Kyphosis Bowing of the long bones Hyperhidrosis Retinal detachment Vitreoretinopathy Pathologic fracture Premature graying of hair Vitreous hemorrhage Bowing of the legs Muscular hypotonia Growth delay Pain Phthisis bulbi Intellectual disability, mild Skeletal dysplasia Blindness Pectus carinatum Primary hypercortisolism Micrognathia Macronodular adrenal hyperplasia Abnormal facial shape Abnormal autonomic nervous system physiology Dorsocervical fat pad Congenital hip dislocation Low-set ears Moon facies EMG abnormality Coxa valga Coxa vara Narrow palpebral fissure Sleep apnea Overfolded helix Myotonia Skeletal muscle hypertrophy High pitched voice Hip contracture Malignant hyperthermia Blepharospasm Ptosis Flat face Flexion contracture Pes planus Microcornea Full cheeks Constrictive median neuropathy Decreased testicular size Lumbar hyperlordosis Talipes Joint contracture of the hand Elbow flexion contracture Blepharophimosis Camptodactyly Apnea Rigidity Umbilical hernia Fever Proptosis Narrow mouth Severe short stature Delayed skeletal maturation Inguinal hernia Hyporeflexia Midface retrusion Malar flattening Respiratory distress Short neck Abnormality of the skeletal system Dysphagia Talipes equinovarus Long eyelashes in irregular rows Coronal cleft vertebrae Macule Taurodontia Abnormal eyebrow morphology Neoplasm of the pancreas Blepharitis Abnormal eyelash morphology Premature loss of teeth Aplasia/Hypoplasia of the skin Skin vesicle Neurofibromas White hair Hypermelanotic macule Abnormality of coagulation Pulmonary fibrosis Epiphora Tracheoesophageal fistula Myelodysplasia Dermal atrophy Hypopigmented skin patches Neoplasm of the skin Periodontitis Abnormality of the testis Abnormality of the fingernails Aplastic/hypoplastic toenail Esophageal stenosis Palmar hyperkeratosis Displacement of the external urethral meatus Congenital bullous ichthyosiform erythroderma Anorectal anomaly Reticular hyperpigmentation Nail pits Rough bone trabeculation Porokeratosis Interstitial pneumonitis Oral leukoplakia Abnormality of neutrophils Urethral stenosis Squamous cell carcinoma of the skin Abnormality of the pharynx Testicular atrophy Cellular immunodeficiency Abnormality of female internal genitalia Ridged nail Aplastic anemia Abnormal intestine morphology Bone marrow hypocellularity Hypoplasia of the musculature Smooth tongue Thrombocytopenia Splenomegaly Intrauterine growth retardation Anemia Ataxia Hearing impairment Anterior bowing of long bones Decreased circulating ACTH level Abnormality of femoral epiphysis Generalized muscle hypertrophy Cerebellar hypoplasia Shoulder flexion contracture Pursed lips Percussion myotonia Talipes valgus Temperature instability Flexion contracture of toe Spinal deformities Weak voice Wrist flexion contracture Alopecia Recurrent respiratory infections Lymphopenia Hypoplasia of the maxilla Skin ulcer Hepatic fibrosis Hyperpigmentation of the skin Pancytopenia Cerebral calcification Specific learning disability Abnormal blistering of the skin Nail dysplasia Lymphoma Hypodontia Hyperkeratosis Palmoplantar keratoderma Hepatic failure Cirrhosis Abnormality of skin pigmentation Malabsorption Carious teeth Nail dystrophy Leukemia Sparse hair Mood changes Elevated hepatic transaminase Abdominal obesity Glomerulosclerosis Osteomalacia Glycosuria Hypophosphatemia Focal segmental glomerulosclerosis Metaphyseal irregularity Rickets Hypercalciuria Delayed epiphyseal ossification Chronic kidney disease Nephrocalcinosis Aminoaciduria Bone pain Aciduria Hematuria Microscopic hematuria Mild global developmental delay Abnormality of the kidney Low-molecular-weight proteinuria Renal hypophosphatemia Increased serum 1,25-dihydroxyvitamin D3 Hyperuricosuria Enlargement of the ankles Sparse bone trabeculae Bulging epiphyses Enlargement of the wrists Tubular atrophy Enlarged epiphyses Renal phosphate wasting Tubulointerstitial fibrosis Proximal tubulopathy Thin bony cortex Hyperphosphaturia Abnormality of the lower limb Stage 5 chronic kidney disease Proteinuria Ventricular septal defect Rhegmatogenous retinal detachment Proximal muscle weakness Peripheral retinal neovascularization Peripheral retinal avascularization Retinopathy of prematurity Falciform retinal fold Posterior vitreous detachment Retinal neovascularization Sarcoma Exudative retinal detachment Retinal exudate Exudative vitreoretinopathy Retinal fold Subcapsular cataract Retinopathy Reduced visual acuity Limb muscle weakness Osteomyelitis Difficulty walking Patchy osteosclerosis Elevated serum creatine phosphokinase Renal insufficiency Cognitive impairment Osteomyelitis leading to amputation due to slow healing fractures Diaphyseal cortical sclerosis Stenosis of the medullary cavity of the long bones Histiocytoma Soft skin Metaphyseal striations Presenile cataracts Fibrosarcoma Limb-girdle muscle atrophy Fractures of the long bones Osteosarcoma Limb-girdle muscle weakness Non-acidotic proximal tubulopathy Microphthalmia Neoplasm of the endocrine system Anorexia Disproportionate tall stature Hemiplegia/hemiparesis Ectopia lentis Intracranial hemorrhage Urticaria Abnormality of retinal pigmentation Amblyopia Arteriovenous malformation Dental crowding Sparse scalp hair Gastrointestinal hemorrhage Arachnodactyly Genu valgum Joint stiffness Pectus excavatum Pulmonary embolism Esophageal varix Behavioral abnormality Memory impairment Increased circulating cortisol level Subarachnoid hemorrhage Striae distensae Orthostatic hypotension Agitation Increased body weight Hypotension Cerebral ischemia Hirsutism Mental deterioration Obesity Edema Abnormality of amino acid metabolism Subcutaneous hemorrhage Arterial thrombosis Hernia Optic atrophy Joint laxity Iris atrophy Small for gestational age Pneumonia Congestive heart failure Respiratory insufficiency Absent anterior chamber of the eye Severe platyspondyly Retinoblastoma Convex nasal ridge Glioma Retinal dysplasia Barrel-shaped chest Inability to walk Joint hypermobility Congenital cataract Corneal opacity Premature birth Coarctation of aorta High palate Multiple prenatal fractures Seizures Absent ossification of calvaria Crumpled long bones Beaded ribs Abnormality of calvarial morphology Broad long bones Lens luxation Blue sclerae Pulmonary insufficiency Nonimmune hydrops fetalis Tibial bowing Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Wormian bones Large fontanelles Absent lacrimal punctum



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