Depressed nasal bridge, and Chronic myelogenous leukemia

Diseases related with Depressed nasal bridge and Chronic myelogenous leukemia

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Chronic myelogenous leukemia that can help you solving undiagnosed cases.

Top matches:

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE Is also known as mrxs30|mental retardation, x-linked, syndromic 30|x-linked intellectual disability-nail dystrophy-seizures syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE

Other less relevant matches:

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

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

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

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 is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

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

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Chronic myelogenous leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Depressed nasal bridge and Chronic myelogenous leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Midface retrusion Growth delay Acute lymphoblastic leukemia Macrocephaly Short neck Epicanthus Seizures Wide nasal bridge Hydrocephalus Upslanted palpebral fissure Abnormal facial shape Malar flattening Cafe-au-lait spot Neoplasm Cryptorchidism Edema Myopia Delayed speech and language development Motor delay Low-set ears Ptosis Ventriculomegaly Lymphoma Nystagmus Cleft palate Intrauterine growth retardation Microcephaly Micrognathia Hearing impairment Cataract Downslanted palpebral fissures Broad neck Macrotia Micropenis

Rare Symptoms - Less than 30% cases

Amenorrhea Microphthalmia Deep philtrum Hydronephrosis Primary amenorrhea Anal atresia Full cheeks Relative macrocephaly Aggressive behavior Wide nose Dry skin Hyperactivity Small for gestational age Strabismus Wide intermamillary distance Thrombocytopenia Prominent forehead Attention deficit hyperactivity disorder Rhabdomyosarcoma Scoliosis Combined immunodeficiency Freckling Webbed neck Bilateral ptosis Pulmonic stenosis Sloping forehead High forehead Intellectual disability, mild Acute leukemia Generalized tonic-clonic seizures Specific learning disability Posteriorly rotated ears Anemia Atrial septal defect Muscle weakness Sensorineural hearing impairment Hypospadias Abnormality of chromosome stability Immunodeficiency Sleep disturbance Recurrent urinary tract infections Visual loss Neuroblastoma Glaucoma Retrognathia Mental deterioration Overgrowth Otitis media Vitreoretinopathy Ataxia Joint hyperflexibility Retinal detachment Abnormality of the nervous system Chorioretinal atrophy Rigidity Skeletal dysplasia Severe short stature Abnormality of the hair Frontal bossing Blindness Recurrent otitis media Low posterior hairline Myeloid leukemia Anteverted nares Long philtrum Postnatal growth retardation Meningocele Aplasia cutis congenita Mild microcephaly Short nose Short sternum Occipital encephalocele Absent septum pellucidum Feeding difficulties in infancy Brachycephaly Agenesis of corpus callosum Cortical dysplasia Triangular mouth Large forehead Dextrocardia Cerebral hypoplasia Premature chromatid separation Ectopia lentis Embryonal rhabdomyosarcoma Cerebellar hypoplasia Hypodysplasia of the corpus callosum Muscular hypotonia Spasticity Optic atrophy Hypoplasia of the corpus callosum Clinodactyly Calvarial skull defect Occipital meningocele Peripapillary atrophy Macular hypoplasia Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Phthisis bulbi Lymphangioma Band keratopathy Intellectual disability, profound Hyperpigmentation of the skin Sarcoma Myelodysplasia Limb-girdle muscular dystrophy Lens luxation Ambiguous genitalia Oligohydramnios Intellectual disability, severe Total anomalous pulmonary venous return Bifid ureter Aplasia cutis congenita of scalp Dandy-Walker malformation Nephroblastoma Anomalous pulmonary venous return Generalized myoclonic seizures Bifid scrotum Renal cyst Cephalocele Severe intrauterine growth retardation Severe global developmental delay Multiple renal cysts Muscular dystrophy Thick vermilion border Hypertonia Prominent nasal bridge Bronchiectasis Chronic diarrhea Abnormality of the face Choanal atresia Cutaneous photosensitivity Convex nasal ridge Prominent nose Neurodegeneration Hemolytic anemia Cleft upper lip Intellectual disability, moderate Sinusitis Respiratory failure Recurrent respiratory infections Pneumonia Diarrhea Respiratory insufficiency Skeletal muscle atrophy Chorioretinal lacunae Melanonychia Myopic astigmatism Chorioretinal dysplasia Telangiectasia Lymphopenia Retinal thinning Recurrent bronchitis T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Abnormal hair quantity Glioma Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Anorectal anomaly Abnormal eyelid morphology Low anterior hairline Hearing abnormality Anal stenosis Autoimmune hemolytic anemia Abnormality of the musculature Long nose Non-midline cleft lip Abnormality of neuronal migration Premature ovarian insufficiency Cachexia Recurrent pneumonia Exudative vitreoretinopathy Panniculitis Reduced visual acuity Malar prominence Amblyopia Thickened skin Subcutaneous nodule Thick lower lip vermilion Status epilepticus Bilateral sensorineural hearing impairment Corneal dystrophy Pigmentary retinopathy Broad nasal tip Microcornea Recurrent infection of the gastrointestinal tract Dysgammaglobulinemia Mastoiditis Retinal dystrophy Astigmatism Hypermetropia Corneal opacity Retinopathy Protruding ear Neonatal hypotonia Thin upper lip vermilion Mandibular prognathia Abnormality of retinal pigmentation Penoscrotal hypospadias Erysipelas Underdeveloped supraorbital ridges Abnormal nasolacrimal system morphology Prominent nasal tip Congenital microcephaly Retinal fold Chylothorax Leukonychia Retinal dysplasia Abnormal toenail morphology Gangrene Abnormal eyelash morphology Cellulitis Lymphedema Cortical gyral simplification Agitation Flat occiput Anophthalmia Scaling skin Patent foramen ovale Optic nerve hypoplasia Venous thrombosis Pointed chin Muscle stiffness Skin ulcer Pyloric stenosis Gingival overgrowth Macular degeneration Dysuria Thoracolumbar kyphosis Recurrent ear infections Myelopathy Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Abnormality of femur morphology Central apnea Upper airway obstruction Neonatal short-limb short stature Communicating hydrocephalus Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Hip contracture Central sleep apnea Tibial bowing Myelitis Growth hormone deficiency Broad forehead Sparse hair Hypertrophic cardiomyopathy Hyperkeratosis Abnormal heart morphology Cardiomyopathy Lumbar kyphosis in infancy Spinal stenosis with reduced interpedicular distance Cervical myelopathy Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Small foramen magnum Iritis Cervical cord compression Hypopnea Obstructive lung disease Disproportionate short stature Limited elbow extension Asymmetry of the thorax Conductive hearing impairment Lumbar hyperlordosis Oral cleft Confusion Micromelia Scarring Hyperlordosis Apnea Cleft lip Arthralgia Tetraparesis Gastroesophageal reflux Weight loss Obesity Abnormality of the skeletal system Brachydactyly Hyperreflexia Hypertension Flexion contracture Pain Epidermal acanthosis Osteoarthritis Bowel incontinence Disproportionate short-limb short stature Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Back pain Genu varum Abnormality of pelvic girdle bone morphology Tinnitus Short long bone Abnormal form of the vertebral bodies Infantile muscular hypotonia Sleep apnea Acanthosis nigricans Paraparesis Clonus Short toe Rhizomelia Abnormal lung morphology Abnormality of the metaphysis Curly hair Long eyebrows Horizontal nystagmus Eczema Ectopic calcification Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Upper limb undergrowth Lower limb hyperreflexia Mild short stature Foot dorsiflexor weakness Neutropenia Giant platelets Umbilical hernia Polydactyly Pes cavus Kyphosis Abnormality of the dentition Ventricular septal defect Failure to thrive Hypoplastic sacrum Forearm undergrowth Lower limb hypertonia Median cleft palate Depressed nasal tip Polymicrogyria Narrow face Pachygyria Encephalocele Thin skin High myopia Progressive visual loss Vesicoureteral reflux Bulbous nose Retinal degeneration Folate deficiency Congenital cataract Nyctalopia Alopecia Patent ductus arteriosus Cerebral atrophy Cerebellar atrophy Visual impairment Short 3rd metacarpal Hyposegmentation of neutrophil nuclei Rectovaginal fistula Chromosome breakage Juvenile myelomonocytic leukemia Short foot Echolalia Acute myeloid leukemia Broad hallux Prominent supraorbital ridges Generalized hirsutism Increased body weight Nail dysplasia Hypopigmentation of the skin Downturned corners of mouth Spotty hypopigmentation Hirsutism Thin vermilion border Poor speech Synophrys Nail dystrophy Wide mouth Deeply set eye Pes planus Absent speech Broad face Abnormal hair whorl Esophageal atresia Prominent nasolabial fold Absent thumb Tracheoesophageal fistula Hypoplasia of the radius Bone marrow hypocellularity Renal hypoplasia Microtia Inguinal freckling Pectus excavatum of inferior sternum Optic nerve glioma Superior pectus carinatum Almond-shaped palpebral fissure Axillary freckling Lisch nodules Secundum atrial septal defect Multiple cafe-au-lait spots Neurofibromas Cubitus valgus Telecanthus Hypointensity of cerebral white matter on MRI Regional abnormality of skin Progressive vitiligo


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