Frontal bossing, and Myeloid leukemia

Diseases related with Frontal bossing and Myeloid leukemia

In the following list you will find some of the most common rare diseases related to Frontal bossing and Myeloid leukemia that can help you solving undiagnosed cases.

Top matches:

Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

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

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Other less relevant matches:

High match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

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

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

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

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

SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Medium match CHIME SYNDROME

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.

CHIME SYNDROME Is also known as coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|zunich-kaye syndrome|zunich neuroectodermal syndrome|neuroectodermal syndrome, zunich type|chime syndrome|gpibd5|pigl-cdg|neuroectodermal dysplasia,

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHIME SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Myeloid 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
Hypertelorism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Frontal bossing and Myeloid leukemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Ventricular septal defect

Common Symptoms - More than 50% cases

Neoplasm

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Downslanted palpebral fissures Atrial septal defect Hearing impairment Abnormal facial shape Prominent forehead Abnormal heart morphology Ventriculomegaly Scoliosis Ptosis Postnatal growth retardation Low-set ears Abnormality of cardiovascular system morphology Edema Muscular hypotonia Acute lymphoblastic leukemia Dolichocephaly Cognitive impairment Seizures Overgrowth Failure to thrive Patent ductus arteriosus Lymphoma Feeding difficulties Sparse hair Microcephaly Cryptorchidism High forehead Joint hypermobility Thrombocytopenia Joint laxity Intrauterine growth retardation Abnormality of the dentition Carcinoma Abnormality of the upper limb Multiple cafe-au-lait spots Nephroblastoma Telangiectasia Sloping forehead Abnormality of skin pigmentation Abnormality of the kidney Hypothyroidism Ascites Clinodactyly of the 5th finger Microphthalmia Conductive hearing impairment Cataract Cleft palate Micrognathia Cafe-au-lait spot Abnormality of the nervous system Thick vermilion border Abnormality of the skeletal system High palate Hyperreflexia Webbed neck Delayed speech and language development Polyhydramnios Hydrocephalus

Rare Symptoms - Less than 30% cases

Hypermetropia Broad forehead Abnormal vertebral morphology Cutis laxa Abnormality of the foot Low-set, posteriorly rotated ears Astigmatism Motor delay Macrotia Hypertension Juvenile myelomonocytic leukemia Brachydactyly Redundant skin Multicystic kidney dysplasia Respiratory distress Posteriorly rotated ears Optic atrophy Visual impairment Abnormality of vision Severe short stature Weight loss Vesicoureteral reflux Myelodysplasia Hypodontia Squamous cell carcinoma Tall stature Anemia Pain Bruising susceptibility Hip dislocation Nystagmus Cavum septum pellucidum Hypogonadism Upslanted palpebral fissure Deep philtrum B-cell lymphoma Umbilical hernia Pes planus Abnormality of the eye Corneal opacity Overfolded helix Small for gestational age Finger syndactyly Toe syndactyly Pectus excavatum Depressed nasal ridge Osteolysis Pulmonic stenosis Neutropenia Lymphedema Hypopigmentation of the skin Renal agenesis Tetralogy of Fallot Fine hair Craniosynostosis Short palpebral fissure Large for gestational age Triangular face Hypertrophic cardiomyopathy Deeply set eye Reduced bone mineral density Gastroesophageal reflux Long foot Otitis media Skeletal dysplasia Neuroblastoma Eczema Oral cleft Clubbing of toes Erythema Abnormal aortic morphology Polydactyly Megalencephaly Anteverted nares Arteriovenous malformation Erythroderma Hyperkeratosis Duplicated collecting system Sleep apnea Recurrent otitis media Abnormality of femur morphology Abnormal dermatoglyphics Rhizomelia Short nose Apnea Recurrent urinary tract infections Large hands Wide nasal bridge Cutaneous photosensitivity Sparse scalp hair Melanoma Severe vision loss Nevus flammeus Striae distensae Telangiectasia of the skin Basal cell carcinoma Syringomyelia Arnold-Chiari type I malformation Arrhythmia Abnormal blistering of the skin Severe postnatal growth retardation Large earlobe Hyperhidrosis Dilation of lateral ventricles Aplastic clavicle Atrial flutter Hemihypertrophy Abnormality of the lower limb Aplasia/Hypoplasia of the phalanges of the hand Varicose veins Severe failure to thrive Pulmonary valve atresia Violent behavior Osteopenia Meningioma Capillary hemangioma Skin rash Aplasia/Hypoplasia of the phalanges of the toes Alopecia of scalp Cutis marmorata Osteosarcoma Abnormality of the skin Lower limb hypertonia Cutaneous syndactyly Shock Purpura Postaxial hand polydactyly Giant platelets Median cleft palate Folate deficiency Hyposegmentation of neutrophil nuclei Short 5th metacarpal Short 3rd metacarpal Nevus Retinal detachment Postaxial polydactyly Polymicrogyria Smooth philtrum Stroke Syndactyly Ectopic calcification Abnormality of chromosome segregation Poikiloderma Kyphosis Aplasia/Hypoplasia of the skin Abnormality of digit Cortical dysplasia Concave nasal ridge Hernia Acantholysis Lamellar cataract Acrokeratosis Pes cavus Short 4th metacarpal Generalized tonic-clonic seizures Gingival overgrowth Foot dorsiflexor weakness Mild short stature Arnold-Chiari malformation Lower limb hyperreflexia Ischemic stroke Upper limb undergrowth Hemangioma Keratitis Glaucoma Ureteropelvic junction obstruction Prolonged neonatal jaundice Expressive language delay Hyperplasia of the maxilla Teratoma Hamartomatous polyposis Overbite Abnormal glucose tolerance Periventricular leukomalacia Oxycephaly Advanced eruption of teeth Enlarged cisterna magna High anterior hairline Poor coordination Partial agenesis of the corpus callosum Gray matter heterotopias Agenesis of permanent teeth Precocious puberty Reduced number of teeth Accelerated skeletal maturation Narrow palate Pointed chin Narrow face Hypoplasia of dental enamel Heterotopia Clumsiness Small nail Apraxia High, narrow palate Sacrococcygeal teratoma Small cell lung carcinoma Respiratory tract infection Ectodermal dysplasia Abnormality of dental morphology Brittle hair Growth abnormality Recurrent skin infections Palmoplantar hyperkeratosis Abnormality of the outer ear Widely spaced teeth Skin ulcer Joint contracture of the hand Abnormality of epiphysis morphology Broad-based gait Thick lower lip vermilion Microdontia Bifid uvula Abnormality of the cerebral ventricles Short foot Short palm Ichthyosis Hypotrichosis Short philtrum Coloboma Wide mouth Camptodactyly Hydronephrosis Autism Cerebral cortical atrophy Brachycephaly Cerebral atrophy Genu valgum Aggressive behavior Aplasia/Hypoplasia of the nipples Cutis marmorata telangiectatica congenita Dandy-Walker malformation Growth hormone deficiency Wide nose Bulbous nose Long face Muscular dystrophy Blepharophimosis Decreased fertility Delayed skeletal maturation Clinodactyly Intellectual disability, mild Blue nevus Vascular ring Coarctation of aorta Displacement of the external urethral meatus Progressive macrocephaly Leukocoria Hemimegalencephaly Facial hemangioma Capillary malformation Short lower limbs Subcutaneous hemorrhage Perisylvian polymicrogyria Asymmetric growth Right aortic arch Skin erosion Arterial stenosis Ambiguous genitalia Finger clinodactyly Transposition of the great arteries Rhabdomyosarcoma Increased number of teeth Hypoplastic nipples Neonatal hypotonia Jaundice Coarse facial features Mandibular prognathia Behavioral abnormality Vaginal neoplasm Premature chromatid separation Epidermoid cyst Increased nuchal translucency Acute leukemia Stomach cancer Subvalvular aortic stenosis Microretrognathia Retinal coloboma Intestinal polyposis Duodenal atresia Abnormality of the skull Abnormal lung lobation Abnormality of immune system physiology Atrioventricular canal defect Colon cancer Aplasia/Hypoplasia of the cerebellum Aplasia/Hypoplasia of the corpus callosum Peripheral pulmonary artery stenosis Aortic regurgitation Holoprosencephaly Osteoporosis Hypopigmented skin patches Alopecia Cervical myelopathy Myelitis Spinal stenosis with reduced interpedicular distance 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 Central sleep apnea Gait disturbance Neonatal short-limb short stature Chronic myelogenous leukemia Thoracolumbar kyphosis Recurrent ear infections Myelopathy Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Central apnea Dysuria Upper airway obstruction Lumbar kyphosis in infancy Short neck Generalized joint laxity Cyanosis Poor suck Bicuspid aortic valve Torticollis Vasculitis Bilateral single transverse palmar creases Aortic valve stenosis Hydrops fetalis Hyperpigmentation of the skin Mitral regurgitation Low posterior hairline Epistaxis Hip dysplasia Cardiomyopathy Wide intermamillary distance Esotropia Abnormal bleeding Highly arched eyebrow Falls Pectus carinatum Feeding difficulties in infancy Hepatosplenomegaly Inguinal hernia Long philtrum Splenomegaly Myopathy Communicating hydrocephalus Osteopetrosis Failure to thrive in infancy Obesity Epidermal acanthosis Lumbar hyperlordosis Sleep disturbance Confusion Micromelia Joint hyperflexibility Scarring Hyperlordosis Cleft lip Rigidity Arthralgia Midface retrusion Osteoarthritis Malar flattening Flexion contracture Dysplastic pulmonary valve Atrial septal dilatation Hypoplastic nasal bridge Myeloproliferative disorder Sagittal craniosynostosis Scaphocephaly Cystic hygroma Pterygium Mitral valve prolapse Tetraparesis Abnormal form of the vertebral bodies Spinal cord compression Chronic otitis media Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Hip contracture Disproportionate short stature Tibial bowing Limited elbow extension Bowel incontinence Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Epiphyseal dysplasia Abnormality of the metaphysis Back pain Genu varum Abnormality of pelvic girdle bone morphology Tinnitus Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Acanthosis nigricans Paraparesis Clonus Short toe Abnormal lung morphology Cholelithiasis Bilateral ptosis Diarrhea External ear malformation Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality Irregular hyperpigmentation Abnormal renal morphology Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Absent thumb Hydroureter Ectopic kidney Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Abnormal aortic valve morphology Abnormal localization of kidney Abnormality of the urinary system Compensated hypothyroidism Vomiting Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Absent testis Abnormality of chromosome stability Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Reticulocytopenia Hyperinsulinemia Renal hypoplasia/aplasia Pleural effusion Broad toe Ataxia Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Prominent fingertip pads Fever Chylothorax Hypochromic microcytic anemia Abnormality of the spleen Short attention span Hydrocele testis Facial hypotonia Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Proximal placement of thumb Cubitus valgus Abnormality of the thorax Hepatomegaly Fatigue Cranial nerve paralysis Choanal atresia Azoospermia Leukopenia Type I diabetes mellitus Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Spina bifida Insulin resistance Short thumb Aganglionic megacolon Abnormality of the genital system Pancytopenia Congestive heart failure Oligohydramnios Vertigo Anal atresia Facial asymmetry Abnormal cardiac septum morphology Abnormality of the liver Irritability Proptosis Diabetes mellitus Hypospadias Headache Renal insufficiency Low-set nipples


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