Leukemia, and Bulbous nose

Diseases related with Leukemia and Bulbous nose

In the following list you will find some of the most common rare diseases related to Leukemia and Bulbous nose that can help you solving undiagnosed cases.

Top matches:

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

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Other less relevant matches:

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

Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

CERNUNNOS-XLF DEFICIENCY Is also known as combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|cernunnos xlfd|nhej1 deficiency|scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and

Related symptoms:

  • Microcephaly
  • Growth delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CERNUNNOS-XLF DEFICIENCY

Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (OMIM ) and CDG2A (OMIM ).The neutrophil defect in CDG2C has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), which is a manifestation of the disorder; there are no cases of 'primary' LAD II (Frydman, 1996).Etzioni and Harlan (1999) provided a comprehensive review of both LAD1 (OMIM ) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C Is also known as cdgiic|rhs|lad2|cdg iic|rambam-hasharon syndrome|leukocyte adhesion deficiency, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

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

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

Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009).See also congenital disorder of glycosylation type Iq (CDG1Q ), an allelic disorder with overlapping features.

KAHRIZI SYNDROME; KHRZ Is also known as mental retardation, cataract, coloboma, and kyphosis, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cataract
  • Flexion contracture
  • Motor delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about KAHRIZI SYNDROME; KHRZ

Top 5 symptoms//phenotypes associated to Leukemia and Bulbous nose

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Leukemia and Bulbous nose. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Cataract Intellectual disability, severe Epicanthus Myopia Microcephaly Muscular hypotonia Atrial septal defect Short neck Wide nasal bridge Coarse facial features Microphthalmia Thick vermilion border Hearing impairment Motor delay Ventriculomegaly Acute lymphoblastic leukemia Kyphosis Long philtrum Micrognathia Thrombocytopenia Neoplasm Full cheeks Cerebral cortical atrophy Short nose Bilateral ptosis Abnormal heart morphology Intrauterine growth retardation Downslanted palpebral fissures Recurrent infections Anemia Corneal opacity Thin upper lip vermilion Anteverted nares Multiple cafe-au-lait spots Nystagmus Subvalvular aortic stenosis Hydrocephalus Blindness Hypertelorism Cafe-au-lait spot Ptosis Glaucoma Sloping forehead Astigmatism Edema Low-set ears Lymphoma Wide nose Abnormality of skin pigmentation

Rare Symptoms - Less than 30% cases

Cryptorchidism Congestive heart failure Increased nuchal translucency Abnormality of the dentition Vomiting Scoliosis Posteriorly rotated ears Failure to thrive Autism Scarring Macrotia Feeding difficulties in infancy Abnormality of the kidney Prominent forehead Aggressive behavior High palate Hypertonia Hydronephrosis Optic atrophy Osteopenia Cardiomyopathy Feeding difficulties Webbed neck Hypermetropia Tracheoesophageal fistula Bone marrow hypocellularity Thoracic kyphosis Abnormality of metabolism/homeostasis Severe short stature Intellectual disability, progressive Cellulitis Widow's peak Micropenis Microtia Esophageal atresia Heterotopia Depressed nasal tip Sensorineural hearing impairment Hyperactivity Mandibular prognathia Thick lower lip vermilion Pointed chin Flexion contracture Coloboma Iris coloboma Lymphopenia Autoimmunity Dry skin Optic nerve hypoplasia Retinal dystrophy Sleep disturbance Premature birth Sleep apnea Low posterior hairline Fine hair Thickened skin Lymphedema Hemangioma Deep philtrum Pneumonia Redundant skin Scaling skin Ectropion Melanocytic nevus Obsessive-compulsive behavior Long palpebral fissure Underdeveloped supraorbital ridges Abnormal eyelash morphology Multiple lentigines Immunodeficiency Abnormality of vision Abnormality of the sternum Aplasia/Hypoplasia of the corpus callosum Frontal bossing Dolichocephaly Strabismus Abnormality of the eye Low-set, posteriorly rotated ears High forehead Polyhydramnios Hypothyroidism Clinodactyly of the 5th finger Delayed skeletal maturation Abnormality of cardiovascular system morphology Intellectual disability, mild Ventricular septal defect Abnormality of the skeletal system Cognitive impairment Growth hormone deficiency Chorioretinal atrophy Cleft palate Cerebellar atrophy Cerebral atrophy Progressive visual loss Vesicoureteral reflux Midface retrusion Visual loss Vitreoretinopathy Patent ductus arteriosus Retinal detachment Alopecia Retrognathia Long face High myopia Ataxia Coarctation of aorta Short palpebral fissure Pachygyria Echolalia Premature arteriosclerosis Decrease in T cell count Recurrent viral infections Recurrent bacterial infections Convex nasal ridge Decreased antibody level in blood Lateral displacement of the femoral head Nephrosclerosis Neutropenia Anterior pituitary dysgenesis Moyamoya phenomenon Bird-like facies Abnormal immunoglobulin level Abnormal T cell morphology Abnormal cerebellum morphology Encephalomalacia Gliosis Increased thyroid-stimulating hormone level Shallow acetabular fossae Brain atrophy Migraine B lymphocytopenia Brachydactyly Mild global developmental delay Otitis media Periodontitis Polymicrogyria Developmental regression Leukocytosis Hyperlordosis Narrow face Recurrent otitis media Febrile seizures Retinal degeneration Stroke Nephropathy Bronchiolitis Short foot Hip dislocation Severe global developmental delay Platyspondyly Anxiety Malabsorption Stage 5 chronic kidney disease Mucopolysacchariduria Steroid-resistant nephrotic syndrome Arteriosclerosis Hypoplasia of the capital femoral epiphysis Glomerulosclerosis Hypermelanotic macule Combined immunodeficiency High pitched voice Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Nephritis Glomerulonephritis Epiphyseal dysplasia Encephalitis Glomerulopathy Chronic kidney disease Abnormality of epiphysis morphology Coarse hair Encephalocele Thin skin Reduced bone mineral density Azoospermia Opacification of the corneal stroma Hyperlipidemia Steatorrhea Abnormal form of the vertebral bodies Atherosclerosis Lymphoproliferative disorder Right ventricular cardiomyopathy Cellular immunodeficiency Abnormality of the hair Dentinogenesis imperfecta Precocious atherosclerosis Cerebral ischemia Villous atrophy Waddling gait Decreased testicular size B-cell lymphoma Protuberant abdomen Microdontia Nephrotic syndrome Disproportionate short-trunk short stature Ovoid vertebral bodies Abnormality of the integument Lumbar hyperlordosis Intellectual disability, profound Transient ischemic attack Abnormality of the vasculature Abnormal lung morphology Neutrophilia Forearm undergrowth Reduction of neutrophil motility Camptodactyly Everted lower lip vermilion Oral cleft Cleft upper lip Smooth philtrum Arthrogryposis multiplex congenita Broad forehead Wide mouth Joint stiffness Abnormality of the pinna Postnatal growth retardation Cleft lip Bifid uvula Conductive hearing impairment Weight loss Brachycephaly Agenesis of corpus callosum Dilatation Dystonia Visual impairment Chorioretinal lacunae Melanonychia Myopic astigmatism Highly arched eyebrow Hypertrichosis Exudative vitreoretinopathy Retinal coloboma Knee flexion contracture Elbow flexion contracture Small posterior fossa Duplication of phalanx of hallux Prominent fingertip pads Unilateral ptosis Small thenar eminence Facial edema U-Shaped upper lip vermilion Congenital ptosis Inverted nipples Postnatal microcephaly Protruding tongue Chorioretinal coloboma Overfolded helix Trigonocephaly Abnormality of the outer ear Bicuspid aortic valve Lissencephaly Spontaneous abortion Hoarse voice Low anterior hairline Aortic valve stenosis Chorioretinal dysplasia Retinal thinning Joint hyperflexibility Hypoplastic sacrum Microcornea Attention deficit hyperactivity disorder Retinopathy Protruding ear Neonatal hypotonia Rigidity Reduced visual acuity Upslanted palpebral fissure Hypoplasia of the corpus callosum Spasticity Horizontal nystagmus Specific learning disability Abnormality of chromosome stability Rectovaginal fistula Chromosome breakage Absent thumb Mental deterioration Hypoplasia of the radius Renal hypoplasia Anal atresia Nyctalopia Congenital cataract Broad nasal tip Overgrowth Panniculitis Cortical gyral simplification Erysipelas Abnormal nasolacrimal system morphology Prominent nasal tip Congenital microcephaly Retinal fold Chylothorax Leukonychia Retinal dysplasia Abnormal toenail morphology Gangrene Agitation Pigmentary retinopathy Flat occiput Anophthalmia Patent foramen ovale Venous thrombosis Muscle stiffness Skin ulcer Abnormality of retinal pigmentation Amblyopia Subcutaneous nodule Status epilepticus Bilateral sensorineural hearing impairment Proteinuria Multiple plantar creases Dementia Hypotrichosis Occipital meningocele Bifid ureter Bruising susceptibility Falls Joint hypermobility Peripheral axonal neuropathy Ichthyosis Cephalocele Genu valgum Pulmonic stenosis Abnormality of the cerebral white matter High, narrow palate Nail dystrophy Pruritus Neurological speech impairment Pectus carinatum Abnormal cardiac septum morphology Sparse hair Erythema Respiratory tract infection Irritability Telecanthus Hypertrophic cardiomyopathy Hepatic steatosis Peripapillary atrophy Umbilical hernia Lymphangioma Aspiration Cerebral visual impairment Hyperpigmentation of the skin Lens luxation Band keratopathy Decreased body weight Open mouth Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Phthisis bulbi Palmoplantar keratoderma Cardiomegaly Narrow forehead Abnormality of the cardiovascular system Abnormal vitreous humor morphology Dental malocclusion Cerebellar malformation Intestinal malrotation Nevus Exudative retinal detachment Abnormal bleeding Abdominal distention EEG abnormality Clinodactyly Narrow palate Microretrognathia Rhizomelia Multicystic kidney dysplasia Finger clinodactyly Vaginal neoplasm Premature chromatid separation Epidermoid cyst Osteolysis Abnormal aortic morphology Stomach cancer Rhabdomyosarcoma Intestinal polyposis Ambiguous genitalia Abnormality of the upper limb Duodenal atresia Abnormality of the skull Abnormal lung lobation Abnormality of immune system physiology Holoprosencephaly Atrioventricular canal defect Colon cancer Aplasia/Hypoplasia of the cerebellum Nephroblastoma Myelodysplasia Depressed nasal ridge Delayed speech and language development Gastroesophageal reflux Apnea Proptosis Hyperkeratosis Hyperhidrosis Deeply set eye Constipation Inguinal hernia Encephalopathy Pectus excavatum Depressivity Hernia Malar flattening Splenomegaly Hepatomegaly Behavioral abnormality Craniosynostosis Blepharophimosis Small for gestational age Muscular dystrophy Ascites Triangular face Dysphagia Dandy-Walker malformation Macrocephaly Dysarthria Abnormality of the nail Sparse eyelashes Macular degeneration Hyperextensibility of the finger joints Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Sparse or absent eyelashes Dextrocardia Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Abnormal aortic valve morphology Patchy alopecia Thickened helices Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Abnormal tricuspid valve morphology Optic nerve dysplasia Thick upper lip vermilion Multiple palmar creases Corneal dystrophy Headache Pyloric stenosis Renal insufficiency Diarrhea Fever Hypertension Ectopia lentis Oral aversion Aortic regurgitation Eyelid fasciculation Abnormality of the auditory canal Hypoplasia of the frontal lobes Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Abnormal hair pattern Woolly hair Oculomotor apraxia Brittle hair Aplasia cutis congenita Heart murmur Chronic otitis media Cubitus valgus Meningocele Pleural effusion Calvarial skull defect Sparse eyebrow Large forehead Failure to thrive in infancy Anomalous pulmonary venous return Large for gestational age Aplasia cutis congenita of scalp Hyperextensible skin Poor suck Relative macrocephaly Palmoplantar hyperkeratosis Total anomalous pulmonary venous return Delayed gross motor development Abnormality of the genitourinary system Macular hypoplasia Abnormal palate morphology Cutis laxa Absent eyebrow Open bite Short attention span Anal stenosis Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Cortical dysplasia Alopecia of scalp Atopic dermatitis Poor appetite Submucous cleft hard palate Malnutrition Generalized hyperpigmentation Curly hair Biparietal narrowing Abnormal heart valve morphology Absent septum pellucidum Occipital encephalocele Infantile spasms Neurofibromas Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Hydroureter Capillary hemangioma


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