Carcinoma, and Arthrogryposis multiplex congenita

Diseases related with Carcinoma and Arthrogryposis multiplex congenita

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


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High match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

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

Low 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:

Low 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

Low 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

Low 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

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 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 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

Top 5 symptoms//phenotypes associated to Carcinoma and Arthrogryposis multiplex congenita

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Carious teeth Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Squamous cell carcinoma Delayed skeletal maturation Nail dystrophy Pain Seizures Neoplasm of the skin Sparse hair Hyperhidrosis Short stature Alopecia Hyperkeratosis Palmoplantar keratoderma Abnormality of the dentition Joint laxity Anemia Osteoporosis Anteverted nares Conjunctivitis Muscular hypotonia Syndactyly Depressed nasal bridge Dysphagia Strabismus Global developmental delay Scoliosis Corneal erosion Hemiplegia/hemiparesis Visual impairment Cognitive impairment Nail dysplasia Erythema Ichthyosis Cardiomyopathy Scarring Pruritus Kyphoscoliosis Elbow flexion contracture Micrognathia Constipation Severe short stature

Rare Symptoms - Less than 30% cases


Abnormal blistering of the skin Visual loss Nystagmus Progressive visual loss Large face Fragile skin Generalized hypotonia Cryptorchidism Neuroblastoma Atrophic scars Skin vesicle Hypoplastic toenails Abnormality of dental enamel Milia Curly hair Scaling skin Poor suck Cutis laxa Ectropion Dermal atrophy Abnormality of the fingernails Decreased body weight Atypical scarring of skin Coarse facial features Hearing impairment Amniotic constriction ring Sensorineural hearing impairment Full cheeks Corneal opacity Osteopenia Oral leukoplakia Pes cavus Papule Apnea Feeding difficulties in infancy Irritability Inflammatory abnormality of the skin Osteolysis Delayed puberty Abnormality of the tongue Pectus excavatum Low-set ears Frontal bossing High palate Feeding difficulties Squamous cell carcinoma of the skin Dysarthria Macrocephaly Ankyloglossia Esophageal stricture Eczema Corneal scarring Ventriculomegaly Hydrocephalus Hypoplasia of dental enamel Epidermal acanthosis Long philtrum Abnormality of the anus Skin ulcer Thickened skin Renal cell carcinoma Clinodactyly Hyperlordosis Pectus carinatum Gastrointestinal hemorrhage Reduced tendon reflexes Hypotrichosis Malabsorption Abdominal pain Sparse eyelashes Abnormal pyramidal sign Limited elbow extension Sparse and thin eyebrow Cataract Joint hyperflexibility Aganglionic megacolon Joint hypermobility Hypopigmentation of the skin Fine hair Lumbar hyperlordosis Abnormality of the ribs Postural instability Low-set, posteriorly rotated ears Increased intracranial pressure Basal cell carcinoma Failure to thrive Hepatocellular carcinoma Hypertension Epicanthus Respiratory insufficiency Abnormality of the skeletal system Dilatation Myopia Short neck Hepatomegaly Scarring alopecia of scalp Paraplegia Spastic paraplegia Myofiber disarray Paraparesis Spastic paraparesis Hypodontia Ectodermal dysplasia Absent toenail Vitreomacular adhesion Intellectual disability, severe Joint stiffness Spasticity Agenesis of corpus callosum Increased corneal curvature Systolic heart murmur Mitten deformity Esophageal stenosis Loss of eyelashes Tendon rupture Refractory anemia Thickened Achilles tendon Absent fingernail Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Spontaneous esophageal perforation Peripheral neuropathy Holoprosencephaly 2-3 toe syndactyly Subcapsular cataract Cold-induced sweating Unexplained fevers Excessive salivation Trismus Thoracolumbar scoliosis Opisthotonus Posterior subcapsular cataract Thoracic kyphosis Radial deviation of finger Dilated cardiomyopathy Cubitus valgus Down-sloping shoulders Abnormal autonomic nervous system physiology Sensorimotor neuropathy Round face Abnormality of the foot Thoracic kyphoscoliosis Protruding ear Fulminant hepatic failure Facial palsy Narrow mouth Premature graying of hair Adducted thumb Kyphosis Absent septum pellucidum Muscle weakness Aqueductal stenosis Clear cell renal cell carcinoma Blepharitis Flexion contracture of thumb Corticospinal tract hypoplasia Noncommunicating hydrocephalus Skeletal muscle atrophy Malnutrition Lipodystrophy Pes planus Hypoalbuminemia Deeply set eye Prominent nasal bridge Joint contracture of the hand Hepatic failure Bulbous nose Single transverse palmar crease Triangular face Toe syndactyly Camptodactyly Circumungual hyperkeratosis Opacification of the corneal stroma Dystrophic fingernails Cutaneous photosensitivity Abnormality of skin pigmentation Dry skin Finger syndactyly Camptodactyly of finger Abnormality of corneal stroma Trichiasis Moderate hearing impairment Corneal ulceration Generalized hyperkeratosis Recurrent bacterial skin infections Keratoconjunctivitis Recurrent corneal erosions Corneal neovascularization Hypoplastic fingernail Palmoplantar hyperkeratosis Furrowed tongue Dystrophic toenail Abnormal eyelash morphology Alopecia of scalp Keratoconjunctivitis sicca Severe hearing impairment Cellulitis Macule Aplasia/Hypoplasia of the eyebrow Absent eyebrow Keratitis Congenital sensorineural hearing impairment Urticaria Knee flexion contracture Telangiectasia Recurrent skin infections Delayed eruption of teeth Premature loss of primary teeth Telangiectases in sun-exposed and nonexposed skin Acral blistering Diffuse skin atrophy Overjet Symblepharon Severe photosensitivity Spotty hyperpigmentation Phimosis Spotty hypopigmentation Urethral stricture Laryngeal stenosis Eczematoid dermatitis Overbite Cheilitis Short 5th metacarpal Abnormality of the hand Ridged nail Poikiloderma Short 4th metacarpal Abnormal toenail morphology Esophagitis Periodontitis Gingivitis Abnormality of the skull Turricephaly Gingival bleeding Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Colitis Inflammation of the large intestine Hypohidrosis Severe global developmental delay Melanoma Palmoplantar hyperhidrosis Weight loss Depressivity Behavioral abnormality Hypertonia Fatigue Gait disturbance Anal fissure Skin fissure Macrocephaly at birth Agenesis of premolar Ainhum Foot pain Autoamputation Hidrotic ectodermal dysplasia Abnormality of the gingiva Developmental regression Abnormal oral mucosa morphology Plantar hyperkeratosis Abnormal cornea morphology Alopecia universalis Trichorrhexis nodosa Subungual hyperkeratosis Generalized osteoporosis Hypergranulosis Pili torti Ankylosis Neoplasm of the lung Parakeratosis Anhidrosis Mutism Anxiety Attention deficit hyperactivity disorder Arthritis Amaurosis fugax Photophobia Cerebellar hypoplasia Blindness Urinary tract neoplasm Cardiac diverticulum 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 Leiomyosarcoma Dysgraphia Neurological speech impairment Prostate cancer Intestinal polyposis Pituitary adenoma Neoplasm of the pancreas Ovarian neoplasm Colon cancer Visual field defect Breast carcinoma Hallucinations Memory impairment Migraine Dyskinesia Paresthesia Nausea and vomiting Enlarged cerebellum Abnormality of the testis Loose anagen hair Congenital hypoplastic anemia Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Spinal dysraphism Abnormality of humoral immunity Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Abnormality of chromosome stability Metaphyseal cupping Cellular immunodeficiency Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Aplastic anemia Biconvex vertebral bodies Absent pubertal growth spurt Generalized joint laxity Renal insufficiency Polyhydramnios Proptosis Respiratory failure Cerebral cortical atrophy Hypogonadism Posteriorly rotated ears Inguinal hernia Abnormal heart morphology Arrhythmia Hernia Absent speech Abnormality of cardiovascular system morphology Cerebral atrophy Short nose Flaring of lower rib cage Intellectual disability, mild Myopathy Edema Atrial septal defect Talipes equinovarus Ventricular septal defect Downslanted palpebral fissures Motor delay Delayed speech and language development Ptosis Abnormal facial shape Hypertelorism Pulmonary lymphoma Susceptibility to chickenpox B-cell lymphoma Tracheal stenosis Hypoglycemia Micromelia Abnormality of epiphysis morphology Bronchiectasis Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Blue sclerae Convex nasal ridge Decreased antibody level in blood Lymphoma Neutropenia Small hand Short palm Narrow chest Abnormality of retinal pigmentation Leukemia Abnormal cardiac septum morphology EEG abnormality Skeletal dysplasia Macrotia Brachycephaly Prominent forehead Pneumonia Thrombocytopenia Recurrent infections Immunodeficiency Splenomegaly Diarrhea Wide nasal bridge Rhizomelia Gingival overgrowth Fair hair Abnormality of the hip bone Heart block Upper limb undergrowth Overweight Thrombocytosis Exocrine pancreatic insufficiency Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Anal stenosis Hodgkin lymphoma Macrocytic anemia Metaphyseal dysplasia High hypermetropia Tibial bowing Lymphopenia Femoral bowing Mesomelia Short thorax Cone-shaped epiphysis Metaphyseal widening Portal hypertension Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Sacral dimple Abnormal palate morphology Accelerated skeletal maturation Hypocalcemia Short ribs Gastroesophageal reflux Abnormality of the nervous system Cardiomyocyte hypertrophy Verrucae Hyperextensibility of the finger joints Pneumothorax Concave nail Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Deep palmar crease Labial hypoplasia Redundant neck skin Lack of skin elasticity Central apnea Large forehead Broad femoral neck Achilles tendon contracture Thick upper lip vermilion Large earlobe Woolly hair Progeroid facial appearance Barrel-shaped chest Megalencephaly Fragile nails Thickened nuchal skin fold Microscopic hematuria Severe postnatal growth retardation Obstructive sleep apnea Soft skin Neonatal hypoglycemia Rhabdomyosarcoma Schwannoma Syringomyelia Postprandial hyperglycemia Bladder carcinoma Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Deep-set nails Vestibular Schwannoma Frontal hirsutism Ganglioneuroblastoma Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Shyness Body odor Abnormality of earlobe Ulnar deviation of the wrist Duodenal ulcer Abnormal pulmonary valve morphology Bladder neoplasm Capillary malformation Triangular mouth Melena Hematemesis Deep plantar creases Thin nail Papilloma Bronchomalacia Fetal distress Limited elbow movement Arnold-Chiari type I malformation Central hypotonia Hypertrophic cardiomyopathy Sepsis Hyperpigmentation of the skin Long eyelashes Atrial fibrillation Thick lower lip vermilion Apraxia Mitral valve prolapse Overgrowth Hip dysplasia Abnormality of the skin Growth hormone deficiency Webbed neck Premature birth Nevus Macroglossia Lymphedema Tetraplegia Ascites Sleep disturbance High, narrow palate Hematuria Thick vermilion border Wide nose Tachycardia Astigmatism Pulmonic stenosis Hypermetropia Wide mouth Postnatal growth retardation Intellectual disability, moderate Wide anterior fontanel Hydrops fetalis Tracheomalacia Failure to thrive in infancy Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Keratoconus Reduced subcutaneous adipose tissue Neurodevelopmental delay Large for gestational age Rocker bottom foot Tricuspid regurgitation Bilateral cryptorchidism Hyperglycemia Heart murmur Pleural effusion Aortic aneurysm Redundant skin Cafe-au-lait spot Pyloric stenosis Hyperextensible skin Laryngomalacia Relative macrocephaly Arnold-Chiari malformation Hemangioma Infantile muscular hypotonia Abnormal dermatoglyphics Acanthosis nigricans Short chin Narrow palate Pointed chin Hoarse voice Abnormality of the hair Neoplasm of the urethra



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like High palate and Pneumonia, related diseases and genetic alterations Obesity and Dehydration, related diseases and genetic alterations Cognitive impairment and Mitral valve prolapse, related diseases and genetic alterations Failure to thrive and Colon cancer, related diseases and genetic alterations Hypertension and Short neck, related diseases and genetic alterations Hypertelorism and Dandy-Walker malformation, related diseases and genetic alterations

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