Frontal bossing, and Renal cell carcinoma

Diseases related with Frontal bossing and Renal cell carcinoma

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

Medium match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

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

Other less relevant matches:

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION 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

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

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Medium match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

Low match APERT SYNDROME

Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.

APERT SYNDROME Is also known as acrocephalosyndactyly type 1|acrocephalosyndactyly, type i|acs i|acs1

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about APERT SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Renal cell carcinoma

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Neoplasm Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Frontal bossing and Renal cell carcinoma. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Downslanted palpebral fissures

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly

Common Symptoms - More than 50% cases

Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Abnormality of cardiovascular system morphology

Uncommon Symptoms - Between 30% and 50% cases

Nephroblastoma

Common Symptoms - More than 50% cases

Cognitive impairment

Uncommon Symptoms - Between 30% and 50% cases

High palate

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Hydrocephalus

Uncommon Symptoms - Between 30% and 50% cases

Ventricular septal defect Abnormal heart morphology Abnormality of the skeletal system Muscular hypotonia Overgrowth Joint hypermobility Atrial septal defect Strabismus Low-set ears Micrognathia Failure to thrive Hearing impairment Intellectual disability, mild Thick vermilion border Wide nose Delayed speech and language development Deeply set eye Ascites Dolichocephaly Epicanthus Narrow palate Broad forehead Hypothyroidism Growth delay Multicystic kidney dysplasia Coarse facial features Conductive hearing impairment Wide nasal bridge Prominent forehead Joint laxity Multiple cafe-au-lait spots Tracheomalacia Arrhythmia Patent ductus arteriosus Hernia Abnormality of the skin Toe syndactyly Feeding difficulties Megalencephaly High forehead Mandibular prognathia High, narrow palate Abnormality of the nervous system Motor delay Feeding difficulties in infancy Intrauterine growth retardation Cataract Edema Severe short stature Nevus Cleft palate Growth hormone deficiency Pain Pointed chin Cutis laxa Craniosynostosis Apnea Polyhydramnios Pyloric stenosis Finger syndactyly Arnold-Chiari malformation Carcinoma Anteverted nares Abnormality of the dentition Short neck Eczema Cafe-au-lait spot Thick lower lip vermilion Intellectual disability, moderate Hemangioma Leukemia Myopathy Redundant skin Clinodactyly of the 5th finger Pectus excavatum

Rare Symptoms - Less than 30% cases

Hypoplasia of the corpus callosum Pes planus Dental crowding Epidermal acanthosis Long face Sparse hair Behavioral abnormality Sloping forehead Triangular face Midface retrusion Hypodontia Coarctation of aorta Astigmatism Cardiomyopathy Delayed puberty Thin vermilion border Blepharophimosis Small for gestational age Sensorineural hearing impairment Brachycephaly Joint hyperflexibility Hypogonadism Flat face Inguinal hernia Acanthosis nigricans Capillary malformation Microcephaly Proptosis Large earlobe Osteopenia Postnatal growth retardation Severe postnatal growth retardation Dysarthria Arnold-Chiari type I malformation Syringomyelia Hemihypertrophy Aortic valve stenosis Vesicoureteral reflux Short chin Osteoporosis Large for gestational age Cutaneous syndactyly Respiratory insufficiency Abnormality of the upper limb Sleep disturbance Abnormal aortic morphology Low-set, posteriorly rotated ears Laryngomalacia Delayed skeletal maturation Clinodactyly Short nose Broad nasal tip Hypertension Cavum septum pellucidum Subvalvular aortic stenosis Wide intermamillary distance Verrucae Dysphagia Narrow forehead Syndactyly Microphthalmia Delayed eruption of teeth Osteolysis Hepatomegaly Abnormal vertebral morphology Large fontanelles Neuroblastoma Cutis marmorata Partial agenesis of the corpus callosum Abnormal dermatoglyphics Microretrognathia Ovarian neoplasm Lymphedema Telangiectasia Scaphocephaly Hypoplasia of dental enamel Meningioma Apraxia Arteriovenous malformation Otitis media Facial asymmetry Intestinal polyposis Ptosis Broad thumb Papilloma Posteriorly rotated ears Bifid uvula Immunodeficiency Headache Dilatation Recurrent infections Autism Gastroesophageal reflux Abnormality of the kidney Long philtrum Talipes equinovarus Myopia Polymicrogyria Hypoplasia of the maxilla Webbed neck Macroglossia Lymphoma Decreased antibody level in blood Brachydactyly Hypermetropia Aggressive behavior Hamartomatous polyposis Optic atrophy Progressive macrocephaly Transitional cell carcinoma of the bladder Nystagmus Ectopic anus Acute lymphoblastic leukemia Large forehead Cutis marmorata telangiectatica congenita Cryptorchidism Rhabdomyosarcoma Enlarged cerebellum Fibroma Holoprosencephaly Wide mouth Pectus carinatum Craniofacial osteosclerosis Pulmonic stenosis Arthrogryposis multiplex congenita Abnormality of the metaphysis Hypoglycemia Cerebral calcification Specific learning disability Open mouth Hypertrophic cardiomyopathy Lumbar hyperlordosis Oligohydramnios Tachycardia Irritability Facial paralysis Delayed closure of the anterior fontanelle Hematuria Dental malocclusion Intestinal malrotation Rough bone trabeculation Flexion contracture of toe Asymmetry of the thorax Sclerosis of skull base Premature birth Full cheeks Thoracolumbar kyphosis Broad clavicles Postural instability Alobar holoprosencephaly Sepsis Laryngotracheomalacia Otosclerosis Large iliac wings Fibular aplasia Omphalocele White forelock Tetraplegia Kyphoscoliosis Increased bone mineral density Aganglionic megacolon Facial hyperostosis Misalignment of teeth Osteopetrosis Dysphasia Arachnodactyly High iliac wings Hypoplastic left heart Visual field defect Mixed hearing impairment Pierre-Robin sequence Thickened calvaria Renal insufficiency Osteopathia striata Cleft upper lip Natal tooth Ankylosis Paranasal sinus hypoplasia Straight clavicles Submucous cleft hard palate Anal stenosis Fibular hypoplasia Aphasia Echolalia Broad ribs Cerebral cortical atrophy Joint contracture of the hand Metaphyseal striations Hyperkeratosis Spina bifida Respiratory failure Spontaneous abortion Spina bifida occulta Mutism Nasal speech Thoracic dysplasia Unilateral facial palsy Increased susceptibility to fractures Hyperhidrosis Metaphyseal widening Overfolded helix Flat occiput Pes cavus Hyperostosis Absent speech Laryngeal web Cerebral atrophy Delayed cranial suture closure Barrel-shaped chest Hip dysplasia Inflammatory abnormality of the skin Erythema Skin rash Cough Pruritus Recurrent fractures Asthma Prominent nose Sinusitis Constipation Skin ulcer Hemivertebrae Recurrent bacterial infections Eosinophilia Recurrent skin infections Urticaria Chronic otitis media Pneumonia Increased corneal curvature Bronchitis Loose anagen hair Deep-set nails Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Neonatal sepsis Choroid plexus papilloma Bladder carcinoma Cardiomyocyte hypertrophy Macrocephaly at birth Systolic heart murmur Myofiber disarray Vitreomacular adhesion Tendon rupture Alveolar rhabdomyosarcoma Lymphangiectasis Congenital neuroblastoma Thickened Achilles tendon Squamous cell carcinoma Recurrent sinusitis Frontal hirsutism Vertebral segmentation defect Squamous cell carcinoma of the vulva Impaired neutrophil chemotaxis Visual impairment Agenesis of corpus callosum Micromelia Convex nasal ridge Choanal atresia Absent septum pellucidum Lung abscess Aplasia/Hypoplasia of the thumb Esophageal atresia Corneal erosion Cloverleaf skull Brachyturricephaly Morphological abnormality of the semicircular canal Cervical C5/C6 vertebrae fusion Anal canal squamous carcinoma Opportunistic infection Atopic dermatitis B lymphocytopenia Recurrent bronchitis Chronic mucocutaneous candidiasis Recurrent sinopulmonary infections Increased IgE level Red hair Decrease in T cell count Persistence of primary teeth Fractures of the long bones Recurrent candida infections Recurrent fungal infections T-cell lymphoma Eczematoid dermatitis Recurrent bacterial skin infections Onychomycosis Severe viral infections Recurrent Staphylococcus aureus infections Vestibular Schwannoma Ganglioneuroblastoma Mitral valve prolapse Rhabdomyolysis Hypoplastic toenails Tricuspid regurgitation Rocker bottom foot Neurodevelopmental delay Reduced subcutaneous adipose tissue Keratoconus Curly hair Ulnar deviation of finger Hyperglycemia Generalized hyperpigmentation Central hypotonia Neonatal hypoglycemia Soft skin Obstructive sleep apnea Microscopic hematuria Thickened nuchal skin fold Bilateral cryptorchidism Heart murmur Ophthalmoplegia Hoarse voice Atrial fibrillation Decreased body weight Long eyelashes Hyperpigmentation of the skin Wide anterior fontanel Hydrops fetalis Abnormality of the hair Abnormality of dental enamel Pleural effusion Abnormality of the fingernails Infantile muscular hypotonia Relative macrocephaly Poor suck Hyperextensible skin Failure to thrive in infancy Aortic aneurysm Fragile nails Progeroid facial appearance Concentric hypertrophic cardiomyopathy Triangular mouth Fetal distress Bronchomalacia Large face Thin nail Deep plantar creases Hematemesis Melena Bladder neoplasm Abnormality of earlobe Abnormal pulmonary valve morphology Duodenal ulcer Ulnar deviation of the wrist Body odor Postprandial hyperglycemia Shyness Hypopnea Limited elbow movement Schwannoma Woolly hair Deep palmar crease Thick upper lip vermilion Achilles tendon contracture Central apnea Lack of skin elasticity Abnormality of the testis Redundant neck skin Labial hypoplasia Asymmetric septal hypertrophy Broad femoral neck Abnormal mitral valve morphology Broad philtrum Fasting hypoglycemia Hypoplasia of teeth Concave nail Pneumothorax Hyperextensibility of the finger joints Anal atresia Abnormality of skin pigmentation Microtia Ductal carcinoma in situ Pigmentary retinopathy Cyanosis Abdominal distention Cirrhosis Infertility Retinopathy Hepatosplenomegaly Diabetes mellitus Depressivity Congestive heart failure Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Conjunctival hamartoma Insulin resistance Dysplastic gangliocytoma of the cerebellum Trichilemmoma Fibroadenoma of the breast Neoplasm of the thyroid gland Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Type II diabetes mellitus Increased body weight Abnormality of the penis Constrictive pericarditis Cortical dysplasia Reduced bone mineral density Ischemic stroke Shock Purpura Postaxial hand polydactyly Retinal detachment Postaxial polydactyly Oral cleft Smooth philtrum Stroke Polydactyly Pericardial constriction Hypoplastic frontal sinuses Reduced tendon reflexes J-shaped sella turcica Absent frontal sinuses Peripheral edema Weak voice Prominent superficial veins Myocardial fibrosis Microglossia Insulin-resistant diabetes mellitus Pericarditis Slender long bone Pulmonary fibrosis High pitched voice Premature ovarian insufficiency Cachexia Angioid streaks of the fundus Subcutaneous lipoma Aplasia/Hypoplasia of the skin Exotropia Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Breast carcinoma Melanoma Hypopigmented skin patches Increased intracranial pressure Drooling Cranial nerve paralysis Neoplasm of the skin Lymphopenia Gynecomastia Chronic diarrhea Hand polydactyly Subcutaneous nodule Intention tremor Abnormal cerebellum morphology Palmoplantar keratoderma Nausea and vomiting Papule Proximal muscle weakness Narrow mouth Kyphosis Diarrhea Tremor Skeletal muscle atrophy Muscle weakness Ataxia Intracranial hemorrhage Melanocytic nevus Colonic diverticula Skin tags Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Enlarged polycystic ovaries Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Ovarian cyst Astrocytoma Abnormality of the uterus Furrowed tongue Hydrocele testis Prolactin excess Macule Papilledema Abnormality of the vasculature Lipoma Hashimoto thyroiditis Hodgkin lymphoma Thyroiditis Hyperthyroidism Hamartoma Acute myeloid leukemia Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Abnormality of digit Telangiectasia of the skin Paralysis Increased nuchal translucency Heterotopia Clumsiness Small nail Renal agenesis Genu valgum Respiratory tract infection Neonatal hypotonia Jaundice Macrotia Hyperreflexia Vaginal neoplasm Premature chromatid separation Epidermoid cyst Stomach cancer Narrow face Duodenal atresia Abnormality of the skull Abnormal lung lobation Abnormality of immune system physiology Atrioventricular canal defect Colon cancer Aplasia/Hypoplasia of the cerebellum Myelodysplasia Abnormality of vision Sleep apnea Aplasia/Hypoplasia of the corpus callosum Aortic regurgitation Finger clinodactyly Rhizomelia Tall stature Accelerated skeletal maturation Short palpebral fissure Expressive language delay Hyperlordosis Camptodactyly Facial palsy Cleft lip Hydronephrosis Skeletal dysplasia Retrognathia Intellectual disability, severe Flexion contracture Abnormality of the cerebral ventricles Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Hyperplasia of the maxilla Reduced number of teeth Teratoma Overbite Abnormal glucose tolerance Periventricular leukomalacia Oxycephaly Advanced eruption of teeth Long foot Enlarged cisterna magna High anterior hairline Poor coordination Prolonged neonatal jaundice Agenesis of permanent teeth Large hands Precocious puberty Depressed nasal ridge Ambiguous genitalia Nevus flammeus Leukocoria Attention deficit hyperactivity disorder Scarring Autistic behavior Thin upper lip vermilion Umbilical hernia Hyperactivity Upslanted palpebral fissure Hyporeflexia Obesity Malar flattening Blue nevus Vascular ring Displacement of the external urethral meatus Hemimegalencephaly Downturned corners of mouth Facial hemangioma 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 Varicose veins Capillary hemangioma Severe failure to thrive Short palm Small hand Dandy-Walker malformation Obsessive-compulsive behavior Bulbous nose Muscular dystrophy Corneal opacity Abnormality of the eye Glaucoma Self-biting Pain insensitivity Broad columella Broad face Renal neoplasm Low hanging columella Overweight Supernumerary nipple Mild short stature Self-injurious behavior Highly arched eyebrow Short metatarsal Narrow palpebral fissure Bilateral single transverse palmar creases Short toe Sparse and thin eyebrow Short phalanx of finger Stereotypy Broad-based gait Sparse scalp hair Congenital diaphragmatic hernia Underdeveloped nasal alae Short metacarpal Round face Short foot Acrobrachycephaly


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