Frontal bossing, and Chronic myelogenous leukemia

Diseases related with Frontal bossing and Chronic myelogenous leukemia

In the following list you will find some of the most common rare diseases related to Frontal bossing 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

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

Other less relevant matches:

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

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

Medium 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 Frontal bossing and Chronic myelogenous leukemia

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypertelorism

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

Downslanted palpebral fissures

Common Symptoms - More than 50% cases

Neoplasm

Uncommon Symptoms - Between 30% and 50% cases

Ventricular septal defect Low-set ears Seizures Hearing impairment Strabismus Cognitive impairment Epicanthus Overgrowth Atrial septal defect Prominent forehead Growth delay Muscular hypotonia Abnormal facial shape Scoliosis Abnormal heart morphology Edema Ventriculomegaly Failure to thrive Joint hypermobility Delayed speech and language development Acute lymphoblastic leukemia Joint laxity Pectus excavatum High forehead High palate Hypothyroidism Thick vermilion border Ascites Ptosis Dolichocephaly Patent ductus arteriosus Polyhydramnios Micrognathia Webbed neck Cataract Feeding difficulties Abnormality of the dentition Cafe-au-lait spot Carcinoma Postnatal growth retardation Sparse hair Telangiectasia Multiple cafe-au-lait spots Nephroblastoma Abnormality of cardiovascular system morphology Megalencephaly Pain Motor delay Conductive hearing impairment Abnormality of the nervous system Brachydactyly Lymphoma Abnormality of the kidney Hydrocephalus

Rare Symptoms - Less than 30% cases

Polymicrogyria Otitis media Kyphosis Craniosynostosis Thrombocytopenia Oral cleft Posteriorly rotated ears Long foot Short nose Hydrocele testis Anteverted nares Polydactyly Macrotia Recurrent otitis media Lymphedema Large for gestational age Optic atrophy Cryptorchidism Eczema Pulmonic stenosis Cystic hygroma Gastroesophageal reflux Meningioma Arteriovenous malformation Abnormality of skin pigmentation Hypodontia Erythema Abnormality of the upper limb Hyperkeratosis Melanoma Erythroderma Cavum septum pellucidum Apnea Deep philtrum Diarrhea Hypermetropia Myopathy Juvenile myelomonocytic leukemia Sleep apnea Skeletal dysplasia Scaphocephaly Overfolded helix Acrokeratosis Progressive macrocephaly Rhizomelia Cutis marmorata Cutis marmorata telangiectatica congenita Hypertension Hyperreflexia Sloping forehead Autism Multicystic kidney dysplasia Depressed nasal ridge Vesicoureteral reflux Cutis laxa Abnormality of the skeletal system Microphthalmia Osteolysis Abnormal dermatoglyphics Intrauterine growth retardation Neuroblastoma Triangular face Fine hair Hemangioma Intestinal polyposis Microcephaly Cleft palate Intellectual disability, mild Redundant skin Broad forehead Palmoplantar hyperkeratosis Clinodactyly of the 5th finger Low-set, posteriorly rotated ears Large hands Tall stature Hamartomatous polyposis Corneal opacity Deeply set eye Wide nasal bridge Esotropia Partial agenesis of the corpus callosum Abnormal bleeding Aplasia/Hypoplasia of the phalanges of the toes Low-set nipples Wide intermamillary distance Highly arched eyebrow Gait disturbance Abnormality of the foot Agenesis of permanent teeth Inguinal hernia Hepatosplenomegaly Long philtrum Feeding difficulties in infancy Pectus carinatum Astigmatism Short neck Falls Bruising susceptibility Splenomegaly Precocious puberty Reduced number of teeth Cardiomyopathy Respiratory distress Violent behavior Expressive language delay Pulmonary valve atresia Hip dislocation Broad-based gait Thick lower lip vermilion Tetralogy of Fallot Microdontia Ectodermal dysplasia Bifid uvula Teratoma Hyperplasia of the maxilla Short foot Short palm Ichthyosis Hypotrichosis Short philtrum Joint contracture of the hand Coloboma Wide mouth Camptodactyly Hydronephrosis Cerebral cortical atrophy Brachycephaly Upslanted palpebral fissure Cerebral atrophy Abnormality of the cerebral ventricles Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Abnormality of epiphysis morphology Skin ulcer Aplasia/Hypoplasia of the phalanges of the hand Transposition of the great arteries Clubbing of toes Duplicated collecting system Aplastic clavicle Prolonged neonatal jaundice Ureteropelvic junction obstruction Aplasia/Hypoplasia of the nipples Poor coordination Peripheral pulmonary artery stenosis High anterior hairline Retinal coloboma Acute leukemia Increased number of teeth Decreased fertility Widely spaced teeth Keratitis Enlarged cisterna magna Abnormality of dental morphology Advanced eruption of teeth Oxycephaly Periventricular leukomalacia Abnormal glucose tolerance Overbite Brittle hair Growth abnormality Recurrent skin infections Abnormality of the outer ear Hypoplastic nipples Hypochromic microcytic anemia Hip dysplasia Hyperthyroidism Ovarian cyst Astrocytoma Abnormality of the uterus Furrowed tongue Skin tags Prolactin excess Papilledema Abnormality of the vasculature Lipoma Hashimoto thyroiditis Renal cell carcinoma Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hamartoma Cellular immunodeficiency Acute myeloid leukemia Cellulitis Multiple lipomas Abnormality of the thyroid gland Macule Melanocytic nevus Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Goiter Breast carcinoma Hypopigmented skin patches Increased intracranial pressure Bone cyst Long penis Cranial nerve paralysis Follicular thyroid carcinoma Multiple trichilemmomata Merkel cell skin cancer 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 Cavernous hemangioma 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 Papilloma Enlarged polycystic ovaries Drooling Neoplasm of the skin Cyanosis Abnormality of the thorax Monocytosis Broad toe Prominent fingertip pads Chylothorax Narrow palate Abnormality of the spleen B-cell lymphoma Short attention span Facial hypotonia Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Proximal placement of thumb Cubitus valgus Pleural effusion Arteritis Bilateral ptosis Failure to thrive in infancy Cholelithiasis 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 Pulmonary lymphangiectasia Abnormality of the mediastinum Lymphopenia Proximal muscle weakness Gynecomastia Exotropia Chronic diarrhea Subcutaneous nodule Broad thumb Intention tremor Decreased antibody level in blood Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Palmoplantar keratoderma Nausea and vomiting Papule Intellectual disability, moderate Narrow mouth Reduced factor IX activity Recurrent infections Dilatation Headache Immunodeficiency Tremor Skeletal muscle atrophy Myopia Muscle weakness Ataxia Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Reduced factor XII activity Hypoplasia of olfactory tract Accelerated skeletal maturation Blepharophimosis Pointed chin Childhood onset short-limb short stature Myeloproliferative disorder Sagittal craniosynostosis Pterygium Mitral valve prolapse Hypertrophic cardiomyopathy Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Small foramen magnum Atrial septal dilatation Iritis Cervical cord compression Hypopnea Obstructive lung disease Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Thoracolumbar kyphosis Recurrent ear infections Myelopathy Hypoxemia Hypoplastic nasal bridge Dysplastic pulmonary valve Cor pulmonale Striae distensae Neutropenia Generalized tonic-clonic seizures Umbilical hernia Pes cavus Lamellar cataract Acantholysis Concave nasal ridge Poikiloderma Osteosarcoma Alopecia of scalp Severe vision loss Basal cell carcinoma Visual impairment Squamous cell carcinoma Sparse scalp hair Cutaneous photosensitivity Abnormal blistering of the skin Hypopigmentation of the skin Skin rash Osteopenia Hypogonadism Hyperhidrosis Osteoporosis Alopecia Vomiting Multiple epiphyseal dysplasia Abnormality of femur morphology Foot dorsiflexor weakness Micromelia Short toe Recurrent urinary tract infections Abnormal lung morphology Abnormality of the metaphysis Abnormal form of the vertebral bodies Osteoarthritis Tetraparesis Epidermal acanthosis Lumbar hyperlordosis Sleep disturbance Confusion Joint hyperflexibility Paraparesis Scarring Hyperlordosis Cleft lip Rigidity Arthralgia Weight loss Severe short stature Obesity Midface retrusion Malar flattening Flexion contracture Anemia Clonus Acanthosis nigricans Central apnea Tibial bowing Dysuria Upper airway obstruction Communicating hydrocephalus Generalized joint laxity Osteopetrosis Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Hip contracture Disproportionate short stature Myeloid leukemia Limited elbow extension Infantile muscular hypotonia Bowel incontinence Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Back pain Genu varum Abnormality of pelvic girdle bone morphology Tinnitus Disproportionate short-limb short stature Short long bone Gingival overgrowth Mild short stature Narrow face Short palpebral fissure Abnormality of immune system physiology Atrioventricular canal defect Colon cancer Aplasia/Hypoplasia of the cerebellum Myelodysplasia Abnormality of vision Aplasia/Hypoplasia of the corpus callosum Aortic regurgitation Holoprosencephaly Microretrognathia Finger clinodactyly Coarctation of aorta Abnormality of the skull Ambiguous genitalia Dandy-Walker malformation Growth hormone deficiency Wide nose Bulbous nose Long face Muscular dystrophy Small for gestational age Abnormality of the eye Glaucoma Delayed skeletal maturation Clinodactyly Abnormal lung lobation Duodenal atresia Vascular ring Neonatal hypotonia Abnormal vertebral morphology Hypoplasia of dental enamel Heterotopia Clumsiness Small nail Apraxia Renal agenesis High, narrow palate Genu valgum Respiratory tract infection Aggressive behavior Jaundice Subvalvular aortic stenosis Pes planus Coarse facial features Mandibular prognathia Behavioral abnormality Nystagmus Vaginal neoplasm Premature chromatid separation Epidermoid cyst Increased nuchal translucency Abnormal aortic morphology Stomach cancer Rhabdomyosarcoma Blue nevus Displacement of the external urethral meatus Lower limb hyperreflexia Arrhythmia Shock Purpura Postaxial hand polydactyly Abnormality of the skin Nevus Retinal detachment Postaxial polydactyly Smooth philtrum Toe syndactyly Finger syndactyly Stroke Hernia Ischemic stroke Syndactyly Short 3rd metacarpal Hyposegmentation of neutrophil nuclei Folate deficiency Median cleft palate Giant platelets Lower limb hypertonia Ectopic calcification Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Upper limb undergrowth Cutaneous syndactyly Arnold-Chiari malformation Leukocoria Hemihypertrophy Hemimegalencephaly Facial hemangioma Capillary malformation Short lower limbs Subcutaneous hemorrhage Perisylvian polymicrogyria Asymmetric growth Right aortic arch Skin erosion Arterial stenosis Dilation of lateral ventricles Atrial flutter Abnormality of the lower limb Reduced bone mineral density Large earlobe Varicose veins Capillary hemangioma Severe failure to thrive Severe postnatal growth retardation Arnold-Chiari type I malformation Nevus flammeus Syringomyelia Telangiectasia of the skin Aplasia/Hypoplasia of the skin Abnormality of digit Cortical dysplasia Lobular carcinoma in situ


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