Carcinoma, and Toe syndactyly

Diseases related with Carcinoma and Toe syndactyly

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


Top matches:

Medium match CURRY-JONES SYNDROME


Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

Medium match CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2


Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

Medium match SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA


Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

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Other less relevant matches:

Medium 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

Medium match KINDLER SYNDROME


Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.

KINDLER SYNDROME Is also known as poikiloderma, hereditary acrokeratotic|poikiloderma of kindler|poikiloderma, congenital, with bullae, weary type|bullous acrokeratotic poikiloderma of kindler and weary|ks

Related symptoms:

  • Anemia
  • Flexion contracture
  • Dysphagia
  • Syndactyly
  • Hyperkeratosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about KINDLER SYNDROME

Medium match LINEAR NEVUS SEBACEUS SYNDROME


Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).

LINEAR NEVUS SEBACEUS SYNDROME Is also known as linear sebaceous nevus syndrome|jnp|sfm syndrome|solomon syndrome|epidermal nevus syndrome, formerly|sebaceous nevus syndrome, linear|nevus sebaceus of jadassohn|jadassohn nevus phakomatosis|nevus sebaceus syndrome|schimmelpenning syndrome|organoid nevus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LINEAR NEVUS SEBACEUS SYNDROME

Medium 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

Medium match PROTEUS SYNDROME


Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Low match THYROID CARCINOMA, HURTHLE CELL


Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thyroid cancers. Although they are classified as variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to take up iodine than are other follicular neoplasms (Sanders and Silverman, 1998).Hurthle cell tumors, also known as oxyphil cell tumors, are composed of cells with increased numbers of mitochondria, which corresponds morphologically to their voluminous, granular, eosinophilic cytoplasm (Maximo et al., 2005).

THYROID CARCINOMA, HURTHLE CELL Is also known as hurthle cell thyroid neoplasia

Related symptoms:

  • Carcinoma


SOURCES: MESH OMIM MENDELIAN

More info about THYROID CARCINOMA, HURTHLE CELL

Low match NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3; NPCA3


Nasopharyngeal carcinoma (NPCA) is a malignant tumor that emerges from the epithelium of the nasopharynx. It has a high incidence in southern China, and evidence suggests that there may be a genetic component that underlies familial clustering. Some patients have onset before 20 years of age (summary by Dai et al., 2016)For a general phenotypic description and a discussion of genetic heterogeneity of susceptibility to nasopharyngeal carcinoma, see NPCA1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Carcinoma


SOURCES: OMIM MENDELIAN

More info about NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3; NPCA3

Top 5 symptoms//phenotypes associated to Carcinoma and Toe syndactyly

Symptoms // Phenotype % cases
Syndactyly Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Carious teeth Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Toe syndactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Facial asymmetry Microphthalmia Scoliosis Hypertelorism Kyphoscoliosis Finger syndactyly Basal cell carcinoma Frontal bossing Growth delay Ptosis Micrognathia Melanocytic nevus Flexion contracture Pain Nevus Microcephaly Milia Squamous cell carcinoma Global developmental delay Visual loss Anemia Proptosis Strabismus Iris coloboma Coloboma Ventriculomegaly Nystagmus Irregular hyperpigmentation Hypopigmentation of the skin Abnormality of skin pigmentation

Rare Symptoms - Less than 30% cases


Dermal atrophy Ectropion Abnormality of the eye Abnormal vertebral morphology Telangiectasia Atrophic scars Skin vesicle Fragile skin Atypical scarring of skin Abnormality of vision Conjunctivitis Neoplasm of the skin Ankyloglossia Abnormal blistering of the skin Horseshoe kidney Epidermal nevus Nail dystrophy Pruritus Spina bifida Scarring Osteopenia Alopecia Constipation Dysphagia Corneal erosion Macrocephaly Abnormality of the neck Epicanthus Disproportionate tall stature EEG abnormality Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Headache Hydrocephalus Abnormality of the skeletal system Hip dislocation Fever Hyperreflexia Hepatomegaly Cryptorchidism Esophageal stricture Dolichocephaly Abnormal facial shape Multiple cafe-au-lait spots Ataxia Hearing impairment Short stature Glaucoma Abdominal pain Downslanted palpebral fissures Arteriovenous malformation Abnormality of the anus Cleft palate Nevus sebaceous Hyperkeratosis High palate Abnormality of the foot Neurofibromas Polymicrogyria Facial palsy Cerebral calcification Seizures Short 4th metacarpal Anteverted nares Depressed nasal bridge Low-set ears Colitis Hemimegalencephaly Hemangioma Medulloblastoma Generalized hirsutism Hypopigmented skin patches Asymmetric growth Exotropia Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Telecanthus Overgrowth Round face Palmoplantar hyperkeratosis Abnormality of the ribs Polydactyly Brachycephaly Papule Hemihypertrophy Abnormality of dental enamel Corneal opacity Palmoplantar keratoderma Craniosynostosis Ichthyosis Abnormality of finger Inflammation of the large intestine Agenesis of corpus callosum Hemiparesis Glomerulonephritis Relative macrocephaly Ectopic calcification Spina bifida occulta Muscle stiffness Supernumerary ribs Hypogonadotrophic hypogonadism Cervical ribs Bradycardia Short ribs Hemivertebrae Dandy-Walker malformation Hyperpigmentation of the skin Astrocytoma Nephritis Brain neoplasm Broad face Skin tags Down-sloping shoulders Fragile nails Narrow nose Sprengel anomaly Ulcerative colitis Thoracic scoliosis Generalized muscle weakness Abnormality of the sternum Vertebral fusion Agenesis of permanent teeth Ophthalmoplegia Talipes Long fingers Neoplasm of the endocrine system Recurrent fractures Attention deficit hyperactivity disorder Proteinuria Hypotension Gangrene Vertebral segmentation defect Motor delay Biparietal narrowing Spasticity Osteomalacia Dilatation of the cerebral artery Genu recurvatum Nevus sebaceus Linear nevus sebaceous Odontogenic neoplasm Brachydactyly Odontoma Abnormality of toe Hyperphosphaturia Hypophosphatemic rickets Cranial asymmetry Abnormality of dental color Porencephalic cyst Adenoma sebaceum Cavernous hemangioma Dysarthria Wide nasal bridge Postaxial polydactyly Plagiocephaly Oral cleft Cleft upper lip Arachnodactyly Hypotrichosis Sparse hair Coarctation of aorta Cleft lip Pachygyria Coarse facial features Reduced tendon reflexes Prominent occiput Aplasia/Hypoplasia of the corpus callosum Retrognathia Precocious puberty Rickets Mandibular prognathia Aplasia/Hypoplasia of the cerebellum Abnormality of dental morphology Pectus excavatum Abnormality of the dentition Hamartomatous polyposis Gliosis Fibroma Abnormality of the wrist Visceral angiomatosis Long penis Thin bony cortex Myofibrillar myopathy Buphthalmos Arterial thrombosis Anisocytosis Lower limb asymmetry Varicose veins Deep venous thrombosis Meningioma Macroorchidism Spinal cord compression Enlarged polycystic ovaries Capillary hemangioma Papilledema Exostoses Lipoma Neoplasm of the lung Abnormal lung lobation Spinal canal stenosis Pulmonary embolism Generalized hyperpigmentation Ovarian neoplasm Hamartoma Multiple lipomas Thick nasal alae Asymmetry of the thorax Hallux valgus Sirenomelia Hypertrophy of skin of soles Depigmentation/hyperpigmentation of skin Connective tissue nevi Central heterochromia Neoplasm of the thymus Abnormal subcutaneous fat tissue distribution Retinal nonattachment Bronchogenic cyst Retinal hamartoma Thymus hyperplasia Facial hyperostosis Narrow internal auditory canal Macrodactyly Vascular skin abnormality Portal vein thrombosis Calvarial hyperostosis Metatarsus valgus Lymphangioma Testicular neoplasm Upper limb asymmetry Keloids Nephrogenic diabetes insipidus Epibulbar dermoid Venous malformation Neoplasm of the central nervous system Generalized hyperkeratosis Thrombophlebitis Pericardial effusion Decreased muscle mass Abnormality of the sense of smell Odontogenic keratocysts of the jaw Recurrent infections Immunodeficiency Kyphosis Splenomegaly Optic atrophy Myopia Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Cardiac rhabdomyoma Skeletal dysplasia Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Macrotia Intellectual disability, moderate Diabetes insipidus Lymphedema Hyperostosis Chorioretinal coloboma Lipodystrophy Cachexia Growth abnormality Reduced number of teeth Goiter Abnormality of the metacarpal bones Venous thrombosis Abnormality of the nail Lymphopenia Sinusitis Abnormality of retinal pigmentation Joint stiffness Thickened skin Subcutaneous nodule Heterotopia Abnormal form of the vertebral bodies Open mouth Epidermal acanthosis High myopia Decreased antibody level in blood Sudden cardiac death Abdominal distention Renal cyst Long face Confusion Abnormality of the nervous system Aplasia/Hypoplasia of the uvula Dilatation Mitten deformity Hypospadias Thrombocytopenia Renal insufficiency Congestive heart failure Atrial septal defect Respiratory distress Fatigue Intrauterine growth retardation Visual impairment Failure to thrive Spontaneous esophageal perforation Esophageal stenosis Abnormal heart morphology Loss of eyelashes Refractory anemia Absent fingernail Absent toenail Scarring alopecia of scalp Corneal scarring Squamous cell carcinoma of the skin Blepharitis Malnutrition Hypoalbuminemia Joint contracture of the hand Patent ductus arteriosus Severe short stature Progressive visual loss Leukemia Oligohydramnios Sloping forehead Tetralogy of Fallot Renal agenesis Lymphoma Neutropenia Bruising susceptibility Vertigo Astigmatism Anal atresia Small for gestational age Abnormal cardiac septum morphology Hypogonadism Abnormality of the liver Postnatal growth retardation Irritability Abnormality of the kidney Hypertrophic cardiomyopathy Pes planus Umbilical hernia Hypothyroidism Weight loss Diabetes mellitus Upslanted palpebral fissure Hypoplasia of dental enamel Nail dysplasia Short palpebral fissure Foot polydactyly Long philtrum Peripheral neuropathy Feeding difficulties Muscle weakness Abnormality of thumb phalanx Duplication of thumb phalanx Cutaneous syndactyly of toes Anterior plagiocephaly Optic nerve coloboma Chronic constipation Arnold-Chiari type I malformation Anal stenosis Hyperhidrosis Preaxial hand polydactyly Preaxial polydactyly Bilateral ptosis Narrow palpebral fissure Horizontal nystagmus Broad thumb Abnormality of the skin Intestinal malrotation Microcornea Hirsutism Blepharophimosis Clinodactyly Apnea Delayed puberty Opisthotonus Dilated cardiomyopathy Narrow mouth Osteoporosis Cardiomyopathy Cold-induced sweating Unexplained fevers Excessive salivation Trismus Thoracolumbar scoliosis Renal cell carcinoma Limited elbow extension 2-3 toe syndactyly Camptodactyly Radial deviation of finger Cubitus valgus Scaling skin Poor suck Abnormal autonomic nervous system physiology Elbow flexion contracture Sensorimotor neuropathy Lumbar hyperlordosis Full cheeks Protruding ear Hyperlordosis Feeding difficulties in infancy Pancytopenia Choanal atresia Blindness Neoplasm of head and neck Abnormality of the hand Recurrent skin infections Inflammatory abnormality of the skin Cutaneous photosensitivity Eczema Dry skin Camptodactyly of finger Erythema Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Deficient excision of UV-induced pyrimidine dimers in DNA Turricephaly Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Gingival bleeding Abnormality of the skull Aplasia/Hypoplasia of the iris Spotty hypopigmentation Talipes equinovarus Muscular hypotonia Neoplasm of the urethra Telangiectases in sun-exposed and nonexposed skin Acral blistering Diffuse skin atrophy Overjet Symblepharon Severe photosensitivity Spotty hyperpigmentation Phimosis Urethral stricture Gingivitis Laryngeal stenosis Eczematoid dermatitis Overbite Cheilitis Premature loss of primary teeth Short 5th metacarpal Ridged nail Amniotic constriction ring Poikiloderma Abnormal toenail morphology Esophagitis Periodontitis Complete duplication of thumb phalanx Low-grade fever Abnormality of the genital system Reduced bone mineral density Myeloid leukemia Absent thumb Hydroureter Ectopic kidney Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of the urinary system Renal hypoplasia/aplasia Abnormality of blood and blood-forming tissues Cranial nerve paralysis Azoospermia Leukopenia Type I diabetes mellitus Bone marrow hypocellularity Hypergonadotropic hypogonadism Insulin resistance Short thumb Cafe-au-lait spot Recurrent urinary tract infections Aganglionic megacolon Acute myeloid leukemia Absent radius Meckel diverticulum Acute monocytic leukemia Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Abnormality of femur morphology Aplasia/Hypoplasia of the radius Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality External ear malformation Mandibular hyperostosis



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