Carcinoma, and Camptodactyly of finger

Diseases related with Carcinoma and Camptodactyly of finger

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


Top matches:

High 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 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 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

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Other less relevant matches:

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

Medium match PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME


Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

Medium match KID SYNDROME


Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

Low match MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES


Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.

MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as palmoplantar and periorificial keratoderma|mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|olms|olmsted syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES

Low match LYNCH SYNDROME


LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

Low match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Top 5 symptoms//phenotypes associated to Carcinoma and Camptodactyly of finger

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Carious teeth Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Camptodactyly of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Nail dystrophy Squamous cell carcinoma Intellectual disability Short stature Conjunctivitis Delayed skeletal maturation Neoplasm of the skin Elbow flexion contracture Hepatocellular carcinoma Corneal erosion Hyperhidrosis Hemiplegia/hemiparesis Anemia Alopecia Pruritus Growth delay Palmoplantar keratoderma Ichthyosis Syndactyly Erythema Nail dysplasia Scarring Hyperkeratosis

Rare Symptoms - Less than 30% cases


Neurological speech impairment Hearing impairment Sensorineural hearing impairment Anxiety Kyphoscoliosis Progressive visual loss Clinodactyly Peripheral neuropathy Abnormality of the dentition Micrognathia Scoliosis Sparse hair Osteoporosis Gait disturbance Visual impairment Breast carcinoma Premature graying of hair Spasticity Increased intracranial pressure Squamous cell carcinoma of the skin Corneal scarring Abnormal pyramidal sign Cataract Skeletal muscle atrophy Cognitive impairment Strabismus Scaling skin Thickened skin Nystagmus Global developmental delay Visual loss Constipation Abdominal pain Renal cell carcinoma Dysarthria Muscle weakness Skin ulcer Ectropion Fragile skin Aplasia/Hypoplasia of the skin Skin vesicle Atrophic scars Milia Oral leukoplakia Dermal atrophy Amniotic constriction ring Abnormality of the tongue Telangiectasia Inflammatory abnormality of the skin Abnormal blistering of the skin Papule Corneal opacity Dysphagia Atypical scarring of skin Delayed puberty Abnormality of the anus Esophageal stricture Ankyloglossia Reduced tendon reflexes Osteolysis Pancreatic adenocarcinoma Leiomyosarcoma Amaurosis fugax Dysgraphia Weight loss Prostate cancer Pituitary adenoma Neoplasm of the pancreas Parakeratosis Ovarian neoplasm Neoplasm of the lung Fatigue Intestinal polyposis Anhidrosis Curly hair Cutis laxa Anal fissure Epidermal acanthosis Circumungual hyperkeratosis Abnormality of the fingernails Muscular hypotonia Opacification of the corneal stroma Melanoma Glioblastoma multiforme Neoplasm of the skeletal system Benign neoplasm of the central nervous system Agenesis of premolar Neoplasm of the thyroid gland Agnosia Mutism Ankylosis Ainhum Hidrotic ectodermal dysplasia Paresthesia Autoamputation Palmoplantar hyperhidrosis Abnormality of the gingiva Abnormal oral mucosa morphology Plantar hyperkeratosis Abnormal cornea morphology Developmental regression Irritability Attention deficit hyperactivity disorder Alopecia universalis Malabsorption Nausea and vomiting Trichorrhexis nodosa Subungual hyperkeratosis Dyskinesia Neuroblastoma Visual field defect Abnormality of creatine metabolism Foot pain Pili torti Colon cancer Hypertonia Behavioral abnormality Skin fissure Generalized osteoporosis Depressivity Hypergranulosis Hallucinations Memory impairment Gastrointestinal hemorrhage Migraine Basal cell carcinoma Leukemia Neoplasm of the rectum IgA deficiency B-cell lymphoma Renal neoplasm Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Severe combined immunodeficiency Acute lymphoblastic leukemia Hypopigmentation of hair Hodgkin lymphoma Prematurely aged appearance Lymphoproliferative disorder Myeloid leukemia Abnormality of the immune system Telangiectasia of the skin Multiple cafe-au-lait spots Resting tremor Combined immunodeficiency Glucose intolerance Athetosis Spinal muscular atrophy Abnormality of the testis Spinocerebellar tract degeneration Slurred speech Female hypogonadism IgE deficiency Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Chronic hepatitis Absent Achilles reflex Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Chronic myelogenous leukemia Conjunctival telangiectasia Abnormality of chromosome stability Cellular immunodeficiency Chronic lymphatic leukemia Hypoplasia of the thymus Polycystic ovaries Cerebral palsy Cardiac diverticulum Recurrent respiratory infections Hypodontia Distal muscle weakness Abnormality of the liver Respiratory tract infection Elevated hepatic transaminase Difficulty walking Gait ataxia Diabetes mellitus Myoclonus Pneumonia Abnormality of movement Recurrent infections Immunodeficiency Dystonia Cerebellar atrophy Tremor Failure to thrive Ataxia Microcephaly Urinary tract neoplasm Abnormality of eye movement Unsteady gait Oculomotor apraxia Choreoathetosis Recurrent pneumonia Truncal ataxia Abnormality of the hair Lymphopenia Abnormal vertebral morphology Sinusitis Cafe-au-lait spot Limb ataxia Bronchiectasis Intention tremor Distal amyotrophy Pancytopenia Type II diabetes mellitus Apraxia Hepatitis Decreased antibody level in blood Lymphoma Chorea Progressive cerebellar ataxia Abnormal cerebellum morphology Polyneuropathy Ectodermal dysplasia Severe global developmental delay Hypotrichosis Hyperlordosis Abnormal autonomic nervous system physiology Sensorimotor neuropathy Lumbar hyperlordosis Round face Full cheeks Abnormality of the foot Protruding ear Feeding difficulties in infancy Cubitus valgus Camptodactyly Apnea Facial palsy Long philtrum Anteverted nares Depressed nasal bridge Feeding difficulties High palate Poor suck Radial deviation of finger Neoplasm of the urethra Ventriculomegaly Spastic paraplegia Joint stiffness Coarse facial features Agenesis of corpus callosum Dilatation Intellectual disability, severe Hydrocephalus Macrocephaly 2-3 toe syndactyly Generalized hypotonia Cold-induced sweating Unexplained fevers Excessive salivation Trismus Thoracolumbar scoliosis Limited elbow extension Opisthotonus Low-set ears Telangiectases in sun-exposed and nonexposed skin Paraparesis Palmoplantar hyperkeratosis Turricephaly Gingival bleeding Cutaneous finger syndactyly Colitis Inflammation of the large intestine Abnormality of the hand Recurrent skin infections Abnormality of dental enamel Gingivitis Cutaneous photosensitivity Abnormality of the ribs Eczema Hypopigmentation of the skin Abnormality of skin pigmentation Dry skin Finger syndactyly Abnormality of the skull Periodontitis Acral blistering Laryngeal stenosis Diffuse skin atrophy Overjet Symblepharon Severe photosensitivity Spotty hyperpigmentation Phimosis Spotty hypopigmentation Urethral stricture Eczematoid dermatitis Esophagitis Overbite Cheilitis Premature loss of primary teeth Short 5th metacarpal Ridged nail Poikiloderma Short 4th metacarpal Abnormal toenail morphology Paraplegia Spastic paraparesis Joint laxity Hypohidrosis Absent eyebrow Keratitis Congenital sensorineural hearing impairment Urticaria Sparse eyelashes Knee flexion contracture Sparse and thin eyebrow Aganglionic megacolon Aplasia/Hypoplasia of the eyebrow Fine hair Delayed eruption of teeth Arthritis Photophobia Pes cavus Cerebellar hypoplasia Blindness Cryptorchidism Hypoplastic toenails Macule Thoracic kyphoscoliosis Recurrent corneal erosions Severe short stature Abnormality of corneal stroma Trichiasis Moderate hearing impairment Corneal ulceration Generalized hyperkeratosis Recurrent bacterial skin infections Keratoconjunctivitis Corneal neovascularization Cellulitis Dystrophic fingernails Hypoplastic fingernail Furrowed tongue Dystrophic toenail Abnormal eyelash morphology Alopecia of scalp Keratoconjunctivitis sicca Severe hearing impairment Fulminant hepatic failure Down-sloping shoulders Holoprosencephaly Osteopenia Blepharitis Malnutrition Hypoalbuminemia Joint contracture of the hand Hypoplasia of dental enamel Toe syndactyly Dilated cardiomyopathy Narrow mouth Absent toenail Cardiomyopathy Noncommunicating hydrocephalus Corticospinal tract hypoplasia Flexion contracture of thumb Clear cell renal cell carcinoma Aqueductal stenosis Absent septum pellucidum Adducted thumb Scarring alopecia of scalp Absent fingernail Thoracic kyphosis Prominent nasal bridge Posterior subcapsular cataract Subcapsular cataract Lipodystrophy Decreased body weight Triangular face Single transverse palmar crease Bulbous nose Hepatic failure Deeply set eye Refractory anemia Pes planus Pectus excavatum Kyphosis Frontal bossing Spontaneous esophageal perforation Mitten deformity Esophageal stenosis Loss of eyelashes Defective B cell differentiation



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