Visual impairment, and Osteopenia

Diseases related with Visual impairment and Osteopenia

In the following list you will find some of the most common rare diseases related to Visual impairment and Osteopenia that can help you solving undiagnosed cases.

Top matches:

Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010).For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 (OMIM ).

Related symptoms:

  • Blindness
  • Reduced visual acuity
  • Osteopenia
  • Subcapsular cataract
  • Vitreoretinopathy


SOURCES: MESH OMIM MENDELIAN

More info about EXUDATIVE VITREORETINOPATHY 4; EVR4

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Low match PROLACTINOMA

Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.

PROLACTINOMA Is also known as pituitary lactotrophic adenoma|prloma|prl-secreting pituitary adenoma|prolactin-secreting pituitary adenoma|lactotroph adenoma|prolactinoma, familial

Related symptoms:

  • Seizures
  • Neoplasm
  • Ptosis
  • Fatigue
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROLACTINOMA

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

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

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism.

TSH-SECRETING PITUITARY ADENOMA Is also known as thyrotroph adenoma|pituitary thyrotrophic adenoma|thyroid stimulating hormone-secreting pituitary adenoma|tsh-oma

Related symptoms:

  • Seizures
  • Ptosis
  • Hypertension
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about TSH-SECRETING PITUITARY ADENOMA

Low match SLC39A8-CDG

Congenital disorder of glycosylation type IIn (CDG2N) is an autosomal recessive severe multisystem developmental disorder characterized by delayed psychomotor development apparent from infancy, hypotonia, and variable additional features, such as short stature, seizures, visual impairment, and cerebellar atrophy. Serum transferrin analysis shows a CDG type II pattern (summary by Boycott et al., 2015 and Park et al., 2015).For a discussion of genetic heterogeneity of CDG type II, see CDG2A (OMIM ).

SLC39A8-CDG Is also known as slc39a8 deficiency|cdg2n|congenital disorder of glycosylation type 2n|cdg iin|cdg syndrome type iin|carbohydrate deficient glycoprotein syndrome type iin|cdgiin|cdg-iin|congenital disorder of glycosylation type iin

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SLC39A8-CDG

Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.

METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE Is also known as metaphyseal chondrodysplasia, murk jansen type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE

Top 5 symptoms//phenotypes associated to Visual impairment and Osteopenia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Osteoporosis Common - Between 50% and 80% cases
Blindness Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Visual impairment and Osteopenia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Generalized hypotonia Prominent forehead Inability to walk Cataract Nystagmus Ptosis Neoplasm Progressive visual loss Hypogonadism Flexion contracture Delayed puberty Vomiting

Rare Symptoms - Less than 30% cases

Menstrual irregularities Decreased female libido Easy fatigability Adrenocorticotropin deficient adrenal insufficiency Impotence Central adrenal insufficiency Sudden loss of visual acuity Decreased circulating ACTH level Abnormality of the menstrual cycle Secondary growth hormone deficiency Decreased fertility in females Growth hormone excess Oculomotor nerve palsy Hemianopia Male hypogonadism Bitemporal hemianopia Adrenocorticotropic hormone deficiency Female hypogonadism Internal ophthalmoplegia Decreased fertility in males Knee flexion contracture Squamous cell carcinoma Overgrowth Abnormal blistering of the skin Hearing impairment Syndactyly Severe short stature Carcinoma Hyperhidrosis Alopecia Growth delay Pathologic fracture Erectile abnormalities Joint hypermobility Kyphoscoliosis Cerebral atrophy Ventriculomegaly Feeding difficulties Strabismus Heteronymous hemianopia Abnormality of hair density Hypogonadotrophic hypogonadism Fourth cranial nerve palsy Abnormality of the pituitary gland Cranial nerve paralysis Cranial nerve VI palsy Gynecomastia Fatigue Poor speech EEG abnormality Hypertelorism Cerebellar atrophy Anteverted nares Tremor Cerebral visual impairment Abnormal facial shape Vitreous hemorrhage Vitreoretinopathy Diplopia Headache Pallor Nausea and vomiting Vertigo Hypotension Hyperreflexia Astigmatism Hypermetropia Abnormality of the liver Flat face Limb undergrowth Intellectual disability, profound Misalignment of teeth Anemia Hypsarrhythmia Choanal stenosis Cutaneous syndactyly Hypopnea Apnea Dysphagia Cardiomyopathy Visual loss Constipation Narrow mouth Scarring Dilated cardiomyopathy Upper limb undergrowth Craniosynostosis Wide cranial sutures Clubbing of fingers Increased thyroid-stimulating hormone level Infertility Palpitations Ventricular arrhythmia Goiter Hypokalemia Pericardial effusion Hyperthyroidism Increased circulating gonadotropin level Prolactin excess Thick skull base Supraventricular arrhythmia Periodic hypokalemic paresis Hyperphosphaturia Euthyroid hyperthyroxinemia Enlarged pituitary gland Abnormal visual field test Thyroid crisis Metaphyseal dysostosis Low-set ears Nail dystrophy Metaphyseal cupping Recurrent infections Metaphyseal chondrodysplasia Enlarged joints Cerebral cortical atrophy Pruritus Conjunctivitis Carious teeth Osteolysis Esophageal stenosis Rickets Hypercalcemia Mitten deformity Congestive heart failure Prominent supraorbital ridges Hypercalciuria Spontaneous esophageal perforation Elevated alkaline phosphatase Disproportionate short-limb short stature Short long bone Nephrocalcinosis Loss of eyelashes Micrognathia Short ribs Bowing of the long bones Brachydactyly Choanal atresia Waddling gait Retrognathia Abnormality of the skeletal system Clinodactyly Clinodactyly of the 5th finger Brachycephaly Proptosis Bowing of the legs Refractory anemia Toe syndactyly Atrophic scars Hypoparathyroidism Nail dysplasia Hypoplasia of dental enamel Joint contracture of the hand Hip contracture Neoplasm of the skin Dermal atrophy Hypoalbuminemia Ectropion Malnutrition Milia Skin vesicle Absent fingernail Fragile skin Blepharitis Atypical scarring of skin Corneal erosion Squamous cell carcinoma of the skin Ankyloglossia Esophageal stricture Corneal scarring Scarring alopecia of scalp Absent toenail Abnormality of the anus Hypophosphatemia Weight loss Phthisis bulbi Hypertension Epicanthus Amenorrhea Pituitary adenoma Neoplasm of the endocrine system Pituitary hypothyroidism Anterior hypopituitarism Galactorrhea Pituitary prolactin cell adenoma Dyspareunia Prolactinoma High palate Depressed nasal bridge Macrocephaly Infantile muscular hypotonia Dystonia Midface retrusion Absent speech Encephalopathy Macrotia Deeply set eye Telecanthus Autistic behavior Wide mouth Abnormality of the cerebral white matter Bulbous nose Thick eyebrow Brisk reflexes Status epilepticus High, narrow palate Cognitive impairment Subcapsular cataract Retinal fold Exudative vitreoretinopathy Tractional retinal detachment Retinal exudate Horizontal pendular nystagmus Falciform retinal fold Posterior vitreous detachment Peripheral retinal avascularization Ataxia Spasticity Delayed speech and language development Apraxia Dysarthria Wide nasal bridge Myopia Optic atrophy Cerebellar hypoplasia Gait ataxia Dysmetria Unsteady gait Abnormal cerebellum morphology Hip dysplasia Generalized-onset seizure Narrow forehead Dyskinesia Thick lower lip vermilion Acrokeratosis Cutaneous photosensitivity Diarrhea Abnormality of the dentition Hyperkeratosis Postnatal growth retardation Erythema Sparse hair Skin rash Leukemia Abnormality of skin pigmentation Hypopigmentation of the skin Eczema Sparse scalp hair Frontal bossing Telangiectasia Melanoma Erythroderma Basal cell carcinoma Striae distensae Severe vision loss Alopecia of scalp Osteosarcoma Poikiloderma Concave nasal ridge Acantholysis Lamellar cataract Edema Pain Sparse eyebrow Joint laxity Self-injurious behavior Delayed ability to walk Nasogastric tube feeding Recurrent hand flapping Microcephaly Muscle weakness Muscular hypotonia Ventricular septal defect Intellectual disability, mild Microphthalmia Glaucoma Corneal opacity Absent anterior chamber of the eye Platyspondyly Congenital cataract Recurrent fractures Increased susceptibility to fractures Metaphyseal widening Barrel-shaped chest Retinal dysplasia Glioma Retinoblastoma Iris atrophy Reduced visual acuity Severe platyspondyly Prominent supraorbital arches in adult


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