Carcinoma, and Motor delay

Diseases related with Carcinoma and Motor delay

In the following list you will find some of the most common rare diseases related to Carcinoma and Motor delay that can help you solving undiagnosed cases.


Top matches:

High match PEDIATRIC HEPATOCELLULAR CARCINOMA


Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.

PEDIATRIC HEPATOCELLULAR CARCINOMA Is also known as liver cancer|lcc|childhood-onset hcc|hcc|liver cell carcinoma|hepatoma|cancer, hepatocellular|childhood-onset hepatocellular carcinoma|pediatric hcc

Related symptoms:

  • Microcephaly
  • Neoplasm
  • Cryptorchidism
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEDIATRIC HEPATOCELLULAR CARCINOMA

High match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

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

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Other less relevant matches:

High 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

Medium match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6


Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by Kocak et al., 2014).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6

Medium match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE


BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

Medium match ABETALIPOPROTEINEMIA


Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

ABETALIPOPROTEINEMIA Is also known as hypobetalipoproteinemia, normotriglyceridemic|fhbl|hypobetalipoproteinemia, familial|acanthocytosis with hypobetalipoproteinemia|homozygous familial hypobetalipoproteinemia|bassen-kornzweig disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscular hypotonia
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA

Medium match HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS


Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

Medium match LIPOID PROTEINOSIS


Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

LIPOID PROTEINOSIS Is also known as lipoid proteinosis|urbach-wiethe disease|hyalinosis cutis et mucosae

Related symptoms:

  • Intellectual disability
  • Seizures
  • High palate
  • Dysphagia
  • Respiratory distress


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIPOID PROTEINOSIS

Medium match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Top 5 symptoms//phenotypes associated to Carcinoma and Motor delay

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Motor delay. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Macrocephaly Coarse facial features Hydrocephalus Cryptorchidism Abnormality of the dentition Hearing impairment Scoliosis Ataxia Hypertelorism Downslanted palpebral fissures Frontal bossing Strabismus Anemia Cafe-au-lait spot Joint hypermobility Renal cell carcinoma Diarrhea Dysarthria Chronic diarrhea Microcephaly Hepatomegaly High palate Failure to thrive Generalized hypotonia Papule Abnormality of the liver Pectus excavatum

Rare Symptoms - Less than 30% cases


Delayed speech and language development Astrocytoma Relative macrocephaly Melanocytic nevus Fragile nails Skin tags Immunodeficiency Intellectual disability, mild Fibroma Hamartomatous polyposis Myopathy Ovarian carcinoma Thrombocytopenia Fever Short stature Low-set ears Atrial septal defect Myopia Dilatation Subcutaneous nodule Narrow mouth Ptosis Sepsis Thick lower lip vermilion Decreased body weight Hoarse voice Abnormality of the nervous system Hyperkeratosis Absent speech Long philtrum Ventriculomegaly Dysphagia Depressed nasal bridge Feeding difficulties Muscular hypotonia Intellectual disability, moderate Nystagmus Growth delay Enlarged cerebellum Transitional cell carcinoma of the bladder Verrucae Papilloma Megalencephaly Increased intracranial pressure Hemangioma Hyperpigmentation of the skin Overgrowth Decreased antibody level in blood Macroglossia Neoplasm of the skin Recurrent infections Exotropia Abdominal pain Kyphoscoliosis Sparse hair Proptosis Hepatocellular carcinoma Abnormality of the skeletal system Wide nasal bridge Brachydactyly Epicanthus Hepatic steatosis Cataract Pain Palmoplantar keratoderma Nevus Spasticity Cerebral calcification Chronic hepatitis Cholangitis Abnormality of the testis Lack of skin elasticity Central apnea Gingivitis Large forehead Agammaglobulinemia Achilles tendon contracture Thick upper lip vermilion Large earlobe Woolly hair Redundant neck skin Progeroid facial appearance Barrel-shaped chest Thickened nuchal skin fold Microscopic hematuria Abnormal pulmonary valve morphology Duodenal ulcer Severe postnatal growth retardation Obstructive sleep apnea Ulnar deviation of the wrist Stomatitis Body odor Bladder neoplasm Bronchomalacia Labial hypoplasia Deep plantar creases Large face Limited elbow movement Abnormality of earlobe Schwannoma Recurrent lower respiratory tract infections Broad femoral neck Rhabdomyosarcoma Hyperextensibility of the finger joints Thin nail Pneumothorax Concave nail Fetal distress Hypoplasia of teeth Hematemesis Melena Fasting hypoglycemia Soft skin Broad philtrum Abnormal mitral valve morphology Triangular mouth Capillary malformation Asymmetric septal hypertrophy IgG deficiency Deep palmar crease Neonatal hypoglycemia IgM deficiency Abnormality of the hair Poor suck Laryngomalacia Enlarged tonsils Arnold-Chiari malformation Infantile muscular hypotonia Abnormal dermatoglyphics Cutis laxa Acanthosis nigricans Abnormality of the fingernails Short chin Abnormality of dental enamel Narrow palate Pointed chin Hydrops fetalis Pyloric stenosis Lymphedema Wide anterior fontanel Long eyelashes Agranulocytosis Hypoplasia of dental enamel Atrial fibrillation Opportunistic infection Epidermal acanthosis Apraxia Mitral valve prolapse Eczema IgE deficiency Hip dysplasia Hyperextensible skin Redundant skin Dysgammaglobulinemia Curly hair Increased IgM level Sclerosing cholangitis IgA deficiency Cholangiocarcinoma Arnold-Chiari type I malformation Syringomyelia Central hypotonia Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Neuroblastoma Decreased T cell activation Keratoconus Failure to thrive in infancy Impaired Ig class switch recombination Absence of lymph node germinal center Reduced subcutaneous adipose tissue Neurodevelopmental delay Large for gestational age Rocker bottom foot Tricuspid regurgitation Hypoplastic toenails Bilateral cryptorchidism Hyperglycemia Heart murmur Pleural effusion Aortic aneurysm Postprandial hyperglycemia Embryonal rhabdomyosarcoma Shyness Fat malabsorption Joint stiffness Agenesis of corpus callosum Intellectual disability, severe Flexion contracture Microglossia Nasal polyposis Steatocystoma multiplex Increased HDL cholesterol concentration Abetalipoproteinemia Abnormal oral mucosa morphology Decreased LDL cholesterol concentration Hypocholesterolemia Acanthocytosis Abnormal pyramidal sign Abnormality of the coagulation cascade Reduced tendon reflexes Abnormality of retinal pigmentation Peripheral demyelination Hepatic failure Retinal degeneration Abnormality of movement Malabsorption Rod-cone dystrophy Paranoia Gait disturbance Patchy alopecia Delusions Spastic paraplegia Abnormality of the gingiva Recurrent respiratory infections Acne Oral-pharyngeal dysphagia Oligodontia Hallucinations Thickened skin Abnormal blistering of the skin Memory impairment Alopecia of scalp Scarring Respiratory tract infection Pustule Aggressive behavior Alopecia Paraplegia Dystonia Respiratory distress Noncommunicating hydrocephalus Corticospinal tract hypoplasia Flexion contracture of thumb Clear cell renal cell carcinoma Aqueductal stenosis Absent septum pellucidum Hemiplegia/hemiparesis Adducted thumb Holoprosencephaly Spastic paraparesis Paraparesis Peripheral neuropathy Hoarse cry Hypopnea Myofiber disarray Intrauterine growth retardation Recurrent bacterial infections Increased corneal curvature Systolic heart murmur Leukoencephalopathy Encephalitis Thickened Achilles tendon Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Macrocephaly at birth Nail dystrophy Loose anagen hair Cardiomyocyte hypertrophy Bladder carcinoma Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Fragile skin Deep-set nails Vestibular Schwannoma Frontal hirsutism Ganglioneuroblastoma Concentric hypertrophic cardiomyopathy Cerebellar hypoplasia Nail dysplasia Tongue nodules Recurrent otitis media Bilateral intracranial calcifications Visual impairment Splenomegaly Weight loss Autoimmunity Hemolytic anemia Scrotal hypoplasia Prominent nose Neurodegeneration Neutropenia Otitis media Triangular face Bulbous nose Pancytopenia Choreoathetosis Growth hormone deficiency Thin vermilion border Clumsiness Smooth philtrum Blepharophimosis Involuntary movements Clinodactyly Esophageal stenosis Esophageal stricture Oral leukoplakia Aplastic anemia Bone marrow hypocellularity Abnormality of the skin Abnormality of cardiovascular system morphology Webbed neck Ectopic calcification Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Parietal bossing Vertebral wedging Abnormality of the sense of smell Cervical ribs Supernumerary ribs Medulloblastoma Bifid ribs Brain neoplasm Ulcerative colitis Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Down-sloping shoulders Narrow nose Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Colitis Curved fingers Cardiac rhabdomyoma Agenesis of permanent teeth Abnormality of the kidney Cranial nerve paralysis Lymphopenia Gynecomastia Telangiectasia Broad thumb Intention tremor Lymphoma Abnormal cerebellum morphology Hypoplasia of the maxilla Polymicrogyria Nausea and vomiting Leukemia Proximal muscle weakness Odontogenic keratocysts of the jaw Hypothyroidism Autism Headache Kyphosis Tremor Skeletal muscle atrophy Muscle weakness Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Vertebral fusion Long fingers Hypopigmented skin patches Giant cell hepatitis Glaucoma Brachycephaly Visual loss Microphthalmia Syndactyly Cleft palate Subacute progressive viral hepatitis Viral hepatitis Hepatic necrosis Portal vein thrombosis Epigastric pain Embryonal neoplasm Elevated alpha-fetoprotein Mandibular prognathia Chronic infection Hepatoblastoma Micronodular cirrhosis Hypertyrosinemia Neoplasm of the liver Thrombocytosis Hepatic fibrosis Type II diabetes mellitus Hepatitis Cirrhosis Obesity Vomiting Fatigue Polydactyly Retrognathia Basal cell carcinoma Hemiparesis Milia Disproportionate tall stature Inflammation of the large intestine Nephritis Glomerulonephritis Spina bifida occulta Hemivertebrae Hypogonadotrophic hypogonadism Muscle stiffness Short ribs Spina bifida Bradycardia Abnormality of the ribs EEG abnormality Hypotension Postaxial polydactyly Iris coloboma Oral cleft Cleft upper lip Arachnodactyly Carious teeth Hypotrichosis Coloboma Facial palsy Cleft lip Telecanthus Proteinuria Drooling Melanoma Premature birth Renal insufficiency Hypogonadism Hyperhidrosis Osteoporosis Posteriorly rotated ears Severe short stature Pes cavus Delayed skeletal maturation Inguinal hernia Abnormal heart morphology Arrhythmia Hernia Cerebral atrophy Short nose Respiratory failure Edema Cardiomyopathy Short neck Respiratory insufficiency Anteverted nares Talipes equinovarus Ventricular septal defect Hypertension Abnormal facial shape Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Cerebral cortical atrophy Polyhydramnios Conjunctival hamartoma Delayed puberty Full cheeks Tetraplegia Ascites Postural instability Sleep disturbance High, narrow palate Hematuria Thick vermilion border Wide nose Tachycardia Astigmatism Joint hyperflexibility Pulmonic stenosis Gastroesophageal reflux Hypermetropia Arthrogryposis multiplex congenita Pectus carinatum Wide mouth Postnatal growth retardation Irritability Feeding difficulties in infancy Apnea Low-set, posteriorly rotated ears Joint laxity Hypertrophic cardiomyopathy Hypoglycemia Osteopenia Ductal carcinoma in situ Dysplastic gangliocytoma of the cerebellum Breast carcinoma Hamartoma Hydrocele testis Meningioma Prolactin excess Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Hashimoto thyroiditis Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hyperthyroidism Acute myeloid leukemia Furrowed tongue Multiple cafe-au-lait spots Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Cutis marmorata Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Arteriovenous malformation Abnormality of the uterus Trichilemmoma Intestinal polyp Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Angioid streaks of the fundus Ovarian cyst 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 Enlarged polycystic ovaries Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Intestinal polyposis Impaired memory B cell generation



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