Lymphoma, and High myopia

Diseases related with Lymphoma and High myopia

In the following list you will find some of the most common rare diseases related to Lymphoma and High myopia that can help you solving undiagnosed cases.

Top matches:

BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

Medium match KNOBLOCH SYNDROME

Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

Other less relevant matches:

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Low match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Top 5 symptoms//phenotypes associated to Lymphoma and High myopia

Symptoms // Phenotype % cases
Myopia Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Lymphoma and High myopia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Leukemia

Uncommon Symptoms - Between 30% and 50% cases

Cataract

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Hypertelorism Depressed nasal bridge Nystagmus Abnormal facial shape Microcephaly Strabismus Protruding ear Hydrocephalus Growth delay Atrial septal defect Micrognathia Anteverted nares Thick vermilion border Wide nasal bridge High palate Acute lymphoblastic leukemia Ptosis Pointed chin Ataxia Blindness Visual loss Glaucoma Polymicrogyria Retinal detachment Narrow face Underdeveloped supraorbital ridges Neoplasm Astigmatism Abnormality of the kidney Malabsorption Thrombocytopenia Recurrent infections Intrauterine growth retardation Anemia Downslanted palpebral fissures Hypoplasia of the corpus callosum Cellulitis Sloping forehead Specific learning disability Full cheeks Dry skin Upslanted palpebral fissure Optic atrophy Wide nose Subcutaneous nodule Postnatal growth retardation Edema Mandibular prognathia Cryptorchidism Intellectual disability, severe Short neck Microphthalmia Long philtrum Thin upper lip vermilion Abnormality of the skeletal system Failure to thrive Wide mouth

Rare Symptoms - Less than 30% cases

Melanonychia Chorioretinal dysplasia Panniculitis Cellular immunodeficiency Broad forehead Intellectual disability, moderate Feeding difficulties Erysipelas Brachydactyly Prominent forehead Intellectual disability, mild Vitreoretinopathy Incoordination Aggressive behavior Brachycephaly Attention deficit hyperactivity disorder Abnormality of the vasculature Craniosynostosis Low-set, posteriorly rotated ears Hydronephrosis Hypopigmented skin patches Abnormality of the dentition Chorioretinal atrophy Pectus excavatum Coarse hair Abnormality of cardiovascular system morphology Chylothorax Low-set ears Abnormal nasolacrimal system morphology Retinal dysplasia Leukonychia Severe short stature Skin ulcer Lymphedema Abnormality of retinal pigmentation Amblyopia Thickened skin Frontal bossing Status epilepticus Short nose Retinal dystrophy Dilatation Retinopathy Midface retrusion Scaling skin Rigidity Hypertonia Agenesis of corpus callosum Optic nerve hypoplasia Abnormal heart morphology Sensorineural hearing impairment Abnormal toenail morphology Telecanthus Gangrene Narrow forehead Abnormal eyelash morphology Patent ductus arteriosus B-cell lymphoma Narrow mouth Multiple lentigines Anophthalmia Hodgkin lymphoma Spasticity Abnormality of the hair Corneal opacity Abnormality of skin pigmentation Postnatal microcephaly Abnormality of the sternum Tracheoesophageal fistula Prominent nose Cognitive impairment Lymphopenia Trigonocephaly Bilateral ptosis Diarrhea Kyphosis Low anterior hairline Small hand Heterotopia Aplasia/Hypoplasia of the thumb Pachygyria Immunodeficiency Headache Hypothyroidism Abnormality of the pinna Bifid uvula Pneumonia Prominent nasal bridge Autism Abnormal cerebellum morphology Venous thrombosis Muscle stiffness Micropenis Spina bifida occulta Broad thumb Cerebellar atrophy Retrognathia Coarse facial features Thick lower lip vermilion Chronic diarrhea Fine hair Ventriculomegaly Conductive hearing impairment Aplasia/Hypoplasia of the corpus callosum Overgrowth Congenital cataract Sleep disturbance Joint hyperflexibility Melanocytic nevus Cutis marmorata Multiple cafe-au-lait spots Bulbous nose Hyperactivity Vesicoureteral reflux Skin rash Anteriorly placed anus Narrow nasal bridge Short humerus Oligodactyly Absent radius Hypotelorism Absent thumb Behavioral abnormality Abnormality of the metacarpal bones Pancytopenia Bowing of the long bones Renal dysplasia Large fontanelles Short thumb Abnormal vertebral morphology Hypoplasia of the radius Facial asymmetry Underdeveloped nasal alae Proptosis Anal atresia Failure to thrive in infancy Hypoplasia of the ulna Hallux valgus Abnormal cardiac septum morphology Right ventricular cardiomyopathy Ventricular septal defect Opacification of the corneal stroma Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Nephritis Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Encephalitis Chronic kidney disease Reduced bone mineral density Azoospermia Hyperlipidemia Atherosclerosis Bone marrow hypocellularity High pitched voice Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormal lung morphology Intellectual disability, profound Lumbar hyperlordosis Nephrotic syndrome Microdontia Decreased testicular size Waddling gait Premature birth Migraine Brain atrophy Gliosis Emphysema Combined immunodeficiency Cleft palate Arteriosclerosis Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Dentinogenesis imperfecta Hypermelanotic macule Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder Multiple trichilemmomata Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Protuberant abdomen Glomerulopathy Steatorrhea Fibular hypoplasia Acrokeratosis Aplasia/Hypoplasia of the radius Thyroiditis Hydrocele testis Meningioma Megalencephaly Skin tags Prolactin excess Cutis marmorata telangiectatica congenita Enlarged cerebellum Papilledema Lipoma Trichilemmoma Scaphocephaly Hashimoto thyroiditis Renal cell carcinoma Dysplastic gangliocytoma of the cerebellum Furrowed tongue Ovarian neoplasm Hyperthyroidism Hamartoma Acute myeloid leukemia Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Palmoplantar hyperkeratosis Goiter Breast carcinoma Arteriovenous malformation Abnormality of the uterus Increased intracranial pressure Subcutaneous lipoma Transitional cell carcinoma of the bladder Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Neoplasm of the thyroid gland Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Colonic diverticula Astrocytoma Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Hamartomatous polyposis Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Bone cyst Fibroadenoma of the breast Intestinal polyposis Ovarian cyst Melanoma Hemangioma Abnormality of the ureter Hand oligodactyly Perineal fistula Bicoronal synostosis Aplasia of metacarpal bones Bilateral radial aplasia Flat forehead Urogenital fistula Abnormality of the carpal bones Metopic synostosis Brachyturricephaly Ulnar bowing Aplasia/Hypoplasia of the patella Lambdoidal craniosynostosis Limited elbow movement Patellar hypoplasia Persistent cloaca Anterior plagiocephaly Oxycephaly Abnormal localization of kidney Sagittal craniosynostosis Bilateral conductive hearing impairment Rib fusion Poikiloderma Rectovaginal fistula Osteosarcoma Choanal stenosis Chromosome breakage Coronal craniosynostosis Shallow orbits Carpal synostosis Limited shoulder movement Carpal bone aplasia Drooling Papule Cranial nerve paralysis Neoplasm of the skin Gynecomastia Cafe-au-lait spot Exotropia Telangiectasia Intention tremor Decreased antibody level in blood Macroglossia Hypoplasia of the maxilla Palmoplantar keratoderma Joint hypermobility Nausea and vomiting Conjunctival hamartoma Carcinoma Merkel cell skin cancer Proximal muscle weakness Myopathy Tremor Macrocephaly Skeletal muscle atrophy Delayed speech and language development Pain Muscle weakness Unilateral radial aplasia Ductal carcinoma in situ Aphalangy of the hands Nephropathy Anomalous splenoportal venous system Midface capillary hemangioma Neutropenia Misalignment of teeth Stage 5 chronic kidney disease Aplasia cutis congenita of scalp Occipital meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Phthisis bulbi Lymphangioma Band keratopathy Lens luxation Macular hypoplasia Total anomalous pulmonary venous return Anomalous pulmonary venous return Cephalocele Large forehead Calvarial skull defect Meningocele Aplasia cutis congenita Occipital encephalocele Absent septum pellucidum Cortical dysplasia Dextrocardia Ectopia lentis Pyloric stenosis Corneal dystrophy Macular degeneration Bifid ureter Cerebellar hypoplasia Encephalocele Abnormality of the optic nerve Flat occiput Patent foramen ovale Deep philtrum Bilateral sensorineural hearing impairment Pigmentary retinopathy Broad nasal tip Microcornea Hypermetropia Neonatal hypotonia Macrotia Reduced visual acuity Abnormal eyelid morphology Hyperhidrosis Pleural effusion Abnormality of vision Abnormality of the eye Abnormal ventricular septum morphology Abnormality of lateral ventricle Abnormal aortic valve morphology Heat intolerance Absent eyebrow Hyperextensible skin Growth hormone deficiency Pulmonic stenosis High forehead Horizontal nystagmus Thin skin Cortical gyral simplification Smooth philtrum Hoarse voice Aortic valve stenosis Hypertrichosis Short palpebral fissure Low posterior hairline Webbed neck Highly arched eyebrow Everted lower lip vermilion Iris coloboma Oral cleft Cleft upper lip Arthrogryposis multiplex congenita Lissencephaly Microtia Coloboma Joint stiffness Feeding difficulties in infancy Camptodactyly Cleft lip Weight loss Cerebral cortical atrophy Posteriorly rotated ears Abnormality of metabolism/homeostasis Dystonia Flexion contracture Spontaneous abortion Bicuspid aortic valve Progressive visual loss Facial edema Retinal degeneration Nyctalopia Mental deterioration Alopecia Cerebral atrophy Visual impairment Small posterior fossa Duplication of phalanx of hallux Prominent fingertip pads Unilateral ptosis Small thenar eminence U-Shaped upper lip vermilion Abnormality of the outer ear Congenital ptosis Retinal coloboma Widow's peak Depressed nasal tip Inverted nipples Esophageal atresia Protruding tongue Long palpebral fissure Chorioretinal coloboma Overfolded helix Ectropion Redundant skin Agitation Retinal fold Platyspondyly Delayed skeletal maturation Abnormality of the fingernails Wide anterior fontanel Sparse scalp hair Cutaneous photosensitivity Eczema Asthma Delayed eruption of teeth Short foot Toe syndactyly Blepharophimosis Clinodactyly of the 5th finger Hypospadias Sacral dimple Respiratory insufficiency Overhanging nasal tip Triangular nasal tip Broad fingertip Intermittent hyperventilation Narrow foot Failure of eruption of permanent teeth Small cerebral cortex Square face Large beaked nose Happy demeanor Pes valgus Sandal gap Hypoplastic toenails Thickened helices Vomiting Hip dislocation Stroke Autoimmunity Scarring Hyperlordosis Developmental regression Proteinuria Osteopenia Dementia Renal insufficiency Congestive heart failure Cardiomyopathy Metatarsus adductus Fever Hypertension Abnormality of thumb phalanx Abnormality of female external genitalia Abnormality of neutrophils Rectal prolapse Sparse lateral eyebrow Abnormality of the antihelix Hypoparathyroidism Anal stenosis Submucous cleft hard palate Delayed cranial suture closure Abnormal pattern of respiration Breathing dysregulation Congenital microcephaly Gastroesophageal reflux Single transverse palmar crease Tapered finger Thick eyebrow Severe global developmental delay Neurological speech impairment Short philtrum Autistic behavior Apnea Anxiety Deeply set eye Pes planus Gait ataxia Abdominal distention Pes cavus Constipation Clinodactyly Encephalopathy Absent speech Talipes equinovarus Fatigue Chorioretinal lacunae Myopic astigmatism Exudative vitreoretinopathy Retinal thinning Prominent nasal tip Hypopigmentation of the skin Wide intermamillary distance Abnormality of the helix Clubbing Clubbing of fingers Echolalia Esophagitis Acrocyanosis Hiatus hernia Hyperventilation Dysphasia Aphasia Supernumerary nipple Overlapping toe Cupped ear Self-injurious behavior Convex nasal ridge Short metatarsal Mutism Sleep apnea Widely spaced teeth Abnormal palate morphology Intellectual disability, progressive Finger clinodactyly Abnormal autonomic nervous system physiology Truncal ataxia Aganglionic megacolon Open mouth Cyanosis Lobular carcinoma in situ


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