Frontal bossing, and Acute myeloid leukemia

Diseases related with Frontal bossing and Acute myeloid leukemia

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

Top matches:

High 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

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

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

Other less relevant matches:

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

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

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

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

Medium match ACHONDROPLASIA; ACH

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

Top 5 symptoms//phenotypes associated to Frontal bossing and Acute myeloid leukemia

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Neoplasm

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly

Common Symptoms - More than 50% cases

Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Atrial septal defect Overgrowth Downslanted palpebral fissures Seizures Abnormal heart morphology Ventriculomegaly Epicanthus Strabismus Growth delay Scoliosis Multiple cafe-au-lait spots Dolichocephaly Hypothyroidism Prominent forehead Patent ductus arteriosus Telangiectasia Abnormal facial shape Abnormality of the kidney Carcinoma Acute lymphoblastic leukemia Hydrocephalus Cataract Low-set ears Failure to thrive Micrognathia Cognitive impairment High palate Abnormality of the upper limb Conductive hearing impairment Clinodactyly of the 5th finger Abnormality of skin pigmentation Muscular hypotonia Megalencephaly Cafe-au-lait spot Abnormality of cardiovascular system morphology Delayed speech and language development Edema Abnormality of the dentition Postnatal growth retardation Lymphoma Microphthalmia Arteriovenous malformation Hyperreflexia Nephroblastoma Cleft palate Ptosis Sloping forehead Abnormality of the nervous system Brachydactyly Intrauterine growth retardation Joint hypermobility Abnormality of the skeletal system Pain

Rare Symptoms - Less than 30% cases

Neutropenia Tetralogy of Fallot Toe syndactyly Hypopigmentation of the skin Short palpebral fissure Recurrent urinary tract infections Renal agenesis Hypogonadism Hip dislocation Thrombocytopenia Tall stature Nystagmus Cryptorchidism Anemia Visual impairment Otitis media Severe short stature Finger syndactyly Abnormal vertebral morphology Upslanted palpebral fissure Weight loss Umbilical hernia Pes planus Hypertrophic cardiomyopathy Abnormality of the eye Oral cleft Large hands Reduced bone mineral density Feeding difficulties Deeply set eye Erythema Apnea Craniosynostosis Corneal opacity Hyperkeratosis Ascites Wide nasal bridge Abnormal dermatoglyphics Joint laxity Depressed nasal ridge Cutis laxa Rhizomelia Redundant skin Multicystic kidney dysplasia Osteolysis Sleep apnea Cavum septum pellucidum Long foot High forehead Polyhydramnios Abnormality of vision Erythroderma Myelodysplasia Squamous cell carcinoma Myeloid leukemia Neuroblastoma Abnormality of femur morphology Abnormal aortic morphology Duplicated collecting system Clubbing of toes Large for gestational age Vesicoureteral reflux Sparse hair Polydactyly Skeletal dysplasia Eczema Recurrent otitis media Cutis marmorata telangiectatica congenita Webbed neck Thick vermilion border Hypodontia Short nose Microcephaly Small for gestational age Scaphocephaly Autism Cystic hygroma Headache Pectus excavatum Hamartomatous polyposis Melanoma Hypopigmented skin patches Intellectual disability, mild Intestinal polyposis Hemangioma Abnormality of the uterus Polymicrogyria Meningioma Cranial nerve paralysis Kyphosis Palmoplantar hyperkeratosis Diarrhea Cutis marmorata Acrokeratosis Progressive macrocephaly Ataxia Motor delay Decreased fertility Osteopetrosis Broad-based gait Fine hair Thick lower lip vermilion Aplasia/Hypoplasia of the nipples Microdontia Ureteropelvic junction obstruction Bifid uvula Aplastic clavicle Ectodermal dysplasia Peripheral pulmonary artery stenosis Short foot Short palm Generalized joint laxity Ichthyosis Hypotrichosis Short philtrum Communicating hydrocephalus Upper airway obstruction Abnormality of epiphysis morphology Joint contracture of the hand Spinal cord compression Widely spaced teeth Transposition of the great arteries Keratitis Abnormality of dental morphology Tibial bowing Overfolded helix Brittle hair Growth abnormality Recurrent skin infections Abnormality of the outer ear Disproportionate short stature Retinal coloboma Hip contracture Spinal canal stenosis Coloboma Skin ulcer Increased number of teeth Hypoplastic nipples Abnormality of the elbow Obstructive sleep apnea Acute leukemia Limited elbow extension Capillary malformation Recurrent ear infections Dysuria Agenesis of permanent teeth Abnormal glucose tolerance Periventricular leukomalacia Oxycephaly Small foramen magnum Advanced eruption of teeth Enlarged cisterna magna High anterior hairline Poor coordination Childhood onset short-limb short stature Prolonged neonatal jaundice Partial agenesis of the corpus callosum Precocious puberty Teratoma Reduced number of teeth Brain stem compression Limited hip extension Accelerated skeletal maturation Trident hand Narrow palate Pointed chin Narrow face Lymphedema Spinal stenosis with reduced interpedicular distance Myelitis Overbite Iritis Wide mouth Cerebral cortical atrophy Central apnea Cor pulmonale Multiple epiphyseal dysplasia Hypoxemia Myelopathy Aplasia/Hypoplasia of the phalanges of the hand Camptodactyly Thoracolumbar kyphosis Chronic myelogenous leukemia Hydronephrosis Neonatal short-limb short stature Brachycephaly Hyperplasia of the maxilla Cerebral atrophy Central sleep apnea Cervical myelopathy Abnormality of the cerebral ventricles Obstructive lung disease Hypopnea Cervical cord compression Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Expressive language delay Bowel incontinence Anteverted nares Pulmonary valve atresia Osteoarthritis Scarring Severe postnatal growth retardation Joint hyperflexibility Micromelia Confusion Sleep disturbance Lumbar hyperlordosis Arnold-Chiari type I malformation Epidermal acanthosis Nevus flammeus Tetraparesis Abnormal form of the vertebral bodies Cleft lip Syringomyelia Abnormality of the metaphysis Telangiectasia of the skin Aplasia/Hypoplasia of the skin Heterotopia Abnormal lung morphology Short toe Abnormality of digit Cortical dysplasia Arnold-Chiari malformation Ischemic stroke Cutaneous syndactyly Hyperlordosis Severe failure to thrive Shock Vascular ring Facial hemangioma Subcutaneous hemorrhage Perisylvian polymicrogyria Asymmetric growth Right aortic arch Skin erosion Arterial stenosis Dilation of lateral ventricles Atrial flutter Hemimegalencephaly Leukocoria Displacement of the external urethral meatus Blue nevus Capillary hemangioma Flexion contracture Hypertension Malar flattening Midface retrusion Hemihypertrophy Obesity Abnormality of the lower limb Gastroesophageal reflux Large earlobe Arthralgia Rigidity Varicose veins Clonus Paraparesis Violent behavior Juvenile myelomonocytic leukemia Sparse scalp hair Cutaneous photosensitivity Spondyloepiphyseal dysplasia Abnormal blistering of the skin Skin rash Osteopenia Hyperhidrosis Osteoporosis Alopecia Vomiting Dysplastic pulmonary valve Atrial septal dilatation Hypoplastic nasal bridge Striae distensae Myeloproliferative disorder Sagittal craniosynostosis Pterygium Flared metaphysis Deep philtrum Mitral valve prolapse Pulmonic stenosis Posteriorly rotated ears Short lower limbs Low-set nipples Aplasia/Hypoplasia of the phalanges of the toes Short femoral neck Basal cell carcinoma Severe vision loss Acanthosis nigricans Smooth philtrum Infantile muscular hypotonia Short long bone Purpura Postaxial hand polydactyly Disproportionate short-limb short stature Abnormality of the skin Nevus Retinal detachment Tinnitus Postaxial polydactyly Abnormality of pelvic girdle bone morphology Genu varum Broad forehead Alopecia of scalp Stroke Arrhythmia Hernia Syndactyly Lamellar cataract Acantholysis Back pain Epiphyseal dysplasia Concave nasal ridge Poikiloderma Chronic otitis media Osteosarcoma Hypoplasia of dental enamel Median cleft palate Clumsiness Follicular thyroid carcinoma Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Mucosal telangiectasiae Pseudopapilledema Colorectal polyposis Endometrial carcinoma Varicocele Multiple trichilemmomata Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Merkel cell skin cancer Lobular carcinoma in situ Enlarged polycystic ovaries Anal atresia Hypergonadotropic hypogonadism Spina bifida Insulin resistance Short thumb Aganglionic megacolon Abnormality of the genital system Choanal atresia Pancytopenia Oligohydramnios Bruising susceptibility Vertigo Astigmatism Facial asymmetry Hepatomegaly Abnormality of the foot Abnormal cardiac septum morphology Abnormality of the liver Irritability Proptosis Diabetes mellitus Hypospadias Renal insufficiency Congestive heart failure Respiratory distress Fatigue Fever Papilloma Cavernous hemangioma Horseshoe kidney Palmoplantar keratoderma Neoplasm of the skin Lymphopenia Gynecomastia Exotropia Chronic diarrhea Subcutaneous nodule Broad thumb Intention tremor Decreased antibody level in blood Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Nausea and vomiting Increased intracranial pressure Papule Intellectual disability, moderate Proximal muscle weakness Narrow mouth Recurrent infections Dilatation Immunodeficiency Myopathy Tremor Skeletal muscle atrophy Myopia Muscle weakness Drooling Breast carcinoma Long penis Renal cell carcinoma Cellular immunodeficiency Bone cyst Ovarian cyst Astrocytoma Furrowed tongue Hydrocele testis Skin tags Prolactin excess Papilledema Abnormality of the vasculature Lipoma Hashimoto thyroiditis Hodgkin lymphoma Goiter Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Cellulitis Multiple lipomas Abnormality of the thyroid gland Macule Melanocytic nevus Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Bone marrow hypocellularity Type I diabetes mellitus Small nail Low-set, posteriorly rotated ears Microretrognathia Finger clinodactyly Coarctation of aorta Ambiguous genitalia Dandy-Walker malformation Growth hormone deficiency Triangular face Wide nose Bulbous nose Long face Muscular dystrophy Blepharophimosis Glaucoma Aortic regurgitation Delayed skeletal maturation Clinodactyly Short 3rd metacarpal Hyposegmentation of neutrophil nuclei Folate deficiency Giant platelets Lower limb hypertonia Ectopic calcification Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Upper limb undergrowth Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Mild short stature Optic atrophy Apraxia High, narrow palate Genu valgum Hypermetropia Respiratory tract infection Aggressive behavior Neonatal hypotonia Jaundice Coarse facial features Macrotia Mandibular prognathia Behavioral abnormality Vaginal neoplasm Aplasia/Hypoplasia of the cerebellum Premature chromatid separation Epidermoid cyst Increased nuchal translucency Stomach cancer Rhabdomyosarcoma Subvalvular aortic stenosis Duodenal atresia Abnormality of the skull Abnormal lung lobation Abnormality of immune system physiology Atrioventricular canal defect Colon cancer Lower limb hyperreflexia Foot dorsiflexor weakness Leukopenia Aplasia/Hypoplasia of the radius Acute monocytic leukemia Bicornuate uterus Abnormality of the thumb Abnormality of the testis Aplastic anemia B-cell lymphoma Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality External ear malformation Irregular hyperpigmentation Absent radius Abnormal aortic valve morphology Abnormality of blood and blood-forming tissues Absent thumb Hydroureter Ectopic kidney Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Hyperinsulinemia Abnormality of the urinary system Renal hypoplasia/aplasia Azoospermia Abnormality of the hypothalamus-pituitary axis Abnormal renal morphology Gingival overgrowth Compensated hypothyroidism Generalized tonic-clonic seizures Pes cavus 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 Abnormal localization of kidney 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 Abnormality of chromosome stability Lumbar kyphosis in infancy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and High, narrow palate, related diseases and genetic alterations Dysarthria and Abnormal blistering of the skin, related diseases and genetic alterations Pain and Atrial septal defect, related diseases and genetic alterations Cleft palate and Pectus carinatum, related diseases and genetic alterations Muscle weakness and Pruritus, related diseases and genetic alterations Nystagmus and Hydrocephalus, related diseases and genetic alterations