Carcinoma, and Camptodactyly

Diseases related with Carcinoma and Camptodactyly

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

Top matches:

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 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

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

Other less relevant matches:

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

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

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 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

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

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
Intellectual disability Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

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

Rare Symptoms - Less than 30% cases

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


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