Melanoma, and Poor speech

Diseases related with Melanoma and Poor speech

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

Top matches:

Neuronal ceroid lipofuscinosis-4B is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, {204200}). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by Benitez et al., 2011 and Velinov et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B Is also known as ceroid lipofuscinosis, neuronal, parry type|kufs disease, autosomal dominant

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Dysarthria
  • Tremor


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Other less relevant matches:

Low match WILSON DISEASE

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).

17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31)|monosomy 17q21.31|chromosome 17q21.31 deletion syndrome|microdeletion 17q21.31 syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q21.31 MICRODELETION SYNDROME

Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).

XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX Is also known as xp/cs complex

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM-COCKAYNE SYNDROME COMPLEX

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

Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.

TAY-SACHS DISEASE; TSD Is also known as b variant gm2-gangliosidosis|gm2-gangliosidosis, type i|hexosaminidase a deficiency|hexa deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about TAY-SACHS DISEASE; TSD

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Melanoma and Poor speech

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Melanoma and Poor speech. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Depressivity Cleft palate Spasticity Cryptorchidism Abnormality of cardiovascular system morphology Hypothyroidism Growth delay Dysphagia Involuntary movements Feeding difficulties in infancy Microcephaly Short stature Confusion Hydrocephalus Failure to thrive Ataxia Optic atrophy Tremor Rigidity Behavioral abnormality Dementia

Rare Symptoms - Less than 30% cases

Pyloric stenosis Sensorineural hearing impairment Personality changes Delayed skeletal maturation Strabismus Scoliosis Muscle stiffness Cataract Low-set ears Cognitive impairment High palate Leukoencephalopathy Psychosis Clumsiness Epicanthus Hepatic steatosis Joint hypermobility Abnormality of the cerebral white matter Pruritus Abnormality of the liver Aggressive behavior Anxiety Osteoporosis Cerebral atrophy Dystonia Vomiting Peripheral neuropathy Delayed speech and language development Abnormality of the skeletal system Muscle weakness Expressive language delay Sacral dimple Narrow palpebral fissure Heterotopia Hip dysplasia Cleft upper lip Oral cleft Dry skin Hypermetropia Small for gestational age Abnormal cardiac septum morphology Blepharophimosis Failure to thrive in infancy Hypercholesterolemia Pallor Nystagmus Bicuspid aortic valve Joint laxity Hydronephrosis Conductive hearing impairment Pes cavus Hypospadias Absent speech Long philtrum Kyphosis Abnormality of the dentition Gait disturbance Atrial septal defect Hypoplasia of the corpus callosum Ventriculomegaly Ventricular septal defect Upslanted palpebral fissure Oral-pharyngeal dysphagia Neuroblastoma Vesicoureteral reflux Cerebral cortical atrophy Large fontanelles Myoclonus Prominent metopic ridge Schizophrenia Hypercalciuria Nephrolithiasis Neoplasm Wide anterior fontanel Memory impairment Hepatomegaly Mental deterioration Irritability Splenomegaly Midface retrusion Autism Hyperactivity Obesity Abnormal cerebellum morphology Mandibular prognathia Neurological speech impairment Long face Decerebrate rigidity Psychotic episodes Bifid ribs Therapeutic abortion Mood changes Abnormal anterior horn cell morphology Ebstein anomaly of the tricuspid valve Cherry red spot of the macula Exaggerated startle response Paranoia Psychomotor deterioration Abnormality of the femoral neck GM2-ganglioside accumulation Widened subarachnoid space Bilobate gallbladder Torsion dystonia Action tremor Proximal amyotrophy Loss of speech Congenital talipes calcaneovalgus Aplasia/Hypoplasia involving bones of the feet Internuclear ophthalmoplegia Dilation of lateral ventricles Zebra bodies Myopia Talipes valgus Clinodactyly of the 5th finger Patent ductus arteriosus Clinodactyly Malar flattening Myopathy Abnormal social behavior Cardiomyopathy Anteverted nares Frontal bossing Cranial nerve VI palsy Downslanted palpebral fissures Wide nasal bridge Hypertelorism Noncompaction cardiomyopathy Brachydactyly Asymmetry of the ears Depressed nasal bridge Visual impairment Feeding difficulties Oppositional defiant disorder Abnormality of the hairline Hypoplastic female external genitalia Muscular hypotonia Abnormal facial shape Micrognathia Muscle fibrillation Slurred speech Amyotrophic lateral sclerosis Abnormal oral mucosa morphology Blindness Skeletal muscle atrophy Solitary renal cyst Anal fissure Skin fissure Circumungual hyperkeratosis Agenesis of premolar Ainhum Foot pain Autoamputation Hidrotic ectodermal dysplasia Palmoplantar hyperhidrosis Abnormality of the gingiva Plantar hyperkeratosis Hypertonia Abnormal cornea morphology Alopecia universalis Abnormality of the tongue Trichorrhexis nodosa Amniotic constriction ring Subungual hyperkeratosis Generalized osteoporosis Hypergranulosis Pili torti Oral leukoplakia Ankylosis Neoplasm of the lung Parakeratosis Curly hair Cerebellar atrophy Visual loss Spinal muscular atrophy Urinary incontinence Apathy Incoordination Poor head control Hyperkinesis Progressive hearing impairment EMG abnormality Foot dorsiflexor weakness Aspiration Fasciculations Hallucinations Progressive muscle weakness Choreoathetosis Hyperplastic labia majora Generalized muscle weakness Rod-cone dystrophy Muscle cramps Neurodegeneration Sensory neuropathy Falls Lower limb muscle weakness Abnormal parietal bone morphology Abnormality of the cerebral ventricles Limb muscle weakness Ophthalmoplegia Paralysis Developmental regression Abnormality of the renal pelvis Proximal muscle weakness Respiratory failure Abnormal external genitalia Aortic arch aneurysm Horizontal eyebrow Self-injurious behavior Macule Abnormality of the spleen Delayed closure of the anterior fontanelle Polyphagia Rib fusion Hypermelanotic macule Dysphasia Delayed cranial suture closure Metatarsus adductus Hemiplegia/hemiparesis Congenital sensorineural hearing impairment Clitoral hypertrophy Thickened helices Hand polydactyly Left ventricular noncompaction Colpocephaly Abnormal renal physiology Abnormal left ventricle morphology Patent foramen ovale Abnormality of vision Biliary tract abnormality Delayed gross motor development Infantile muscular hypotonia Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Abnormality of chromosome stability Cranial nerve paralysis Abnormal intestine morphology Spastic tetraparesis High hypermetropia Infantile spasms Generalized hirsutism Overweight 11 pairs of ribs Abnormality of the neck Lower limb asymmetry Optic nerve coloboma Abnormality of the gastrointestinal tract Missing ribs Short 5th finger Ocular albinism Coronal craniosynostosis Abnormal eyebrow morphology Hiatus hernia Self-mutilation Arnold-Chiari type I malformation Epileptic spasms Redundant neck skin Abnormal lung lobation Foot polydactyly Spinal canal stenosis Aortic root aneurysm Submucous cleft hard palate Congenital hypothyroidism Anteriorly placed anus Slender long bone Telangiectasia of the skin Absent septum pellucidum Abnormality of the immune system Abnormal heart valve morphology Delayed CNS myelination Volvulus Cavum septum pellucidum Pointed chin Hypoplastic labia minora Hypogonadism Joint stiffness Abnormality of the pinna Abnormality of the eye Camptodactyly Abnormality of the kidney Low-set, posteriorly rotated ears Neonatal hypotonia Deeply set eye EEG abnormality Gastroesophageal reflux Narrow mouth Micropenis Brachycephaly Impaired social interactions Camptodactyly of finger Lambdoidal craniosynostosis Abnormality of female external genitalia Abnormality of the mandible Gastric ulcer Prominent forehead Abnormality of the anus Abnormality of the optic disc Posteriorly rotated ears Agenesis of corpus callosum Abnormality of brain morphology Constipation Abnormality of the testis Annular pancreas Muscle flaccidity Coloboma Microtia Short phalanx of finger Coarctation of aorta Stereotypy Periventricular leukomalacia Telangiectasia Decreased body weight Pachygyria Mitral regurgitation Hypertrichosis Depressed nasal ridge Abnormal corpus callosum morphology Tetraparesis Ventricular hypertrophy Interphalangeal joint contracture of finger Hypsarrhythmia Abnormality of the ribs Optic disc pallor Dilated cardiomyopathy Hypoplasia of penis Anhidrosis Tetralogy of Fallot Abnormal blistering of the skin Epileptic encephalopathy Abnormality of the skin Intestinal malrotation Delayed myelination Brain atrophy Bifid uvula Renal cyst Short foot Polymicrogyria Synophrys Squamous cell carcinoma Multifocal epileptiform discharges Mutism Anemia Nausea and vomiting Abnormality of the nervous system Proteinuria Arthritis Elevated hepatic transaminase Difficulty walking Hepatosplenomegaly Jaundice Arthralgia Weight loss Thrombocytopenia Edema Fatigue Subchorionic septal cyst Paresthesia Large intestinal polyposis Abnormality of the shape of the midface Adrenocortical cytomegaly Abnormality of pancreas morphology Congenital megaureter Large placenta Posterior helix pit Branchial cyst Infra-orbital crease Adrenocortical carcinoma Facial hemangioma Urogenital fistula Leiomyosarcoma Infertility Peripheral axonal neuropathy Hepatoblastoma Spontaneous abortion Abnormality of blood and blood-forming tissues Arthropathy Osteomalacia Glycosuria Pathologic fracture Global brain atrophy Abnormality of mitochondrial metabolism Back pain Abnormality of the hand Drooling Leukopenia Nephrocalcinosis Aminoaciduria Increased body weight Nausea Bone pain Decreased liver function Cholestasis Osteoarthritis Progressive neurologic deterioration Hepatitis Ascites Coma Polyneuropathy Hemolytic anemia Bruising susceptibility Hepatic failure Cirrhosis Elevated alpha-fetoprotein Anterior creases of earlobe Hepatocellular carcinoma Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Nephropathy Wide mouth Hypertrophic cardiomyopathy Hypoglycemia Umbilical hernia Coarse facial features Polyhydramnios Proptosis Inguinal hernia Macrocephaly Bipolar affective disorder Granular osmiophilic deposits (GROD) in cells Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Premature birth Stooped posture Increased neuronal autofluorescent lipopigment Auditory hallucinations Astrocytoma Tics Visual hallucinations Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Parkinsonism Dyskinesia Retinal degeneration Generalized tonic-clonic seizures Gait ataxia Macroglossia Prominent nose Choroideremia Enlarged kidney Asymmetric growth Abnormality of earlobe Pseudohypoparathyroidism Otosclerosis Rhabdomyosarcoma Ureteral duplication Visceromegaly Gonadoblastoma Hemihypertrophy Diastasis recti Multiple renal cysts Nevus flammeus Neonatal hypoglycemia Exocrine pancreatic insufficiency Congenital diaphragmatic hernia Polycythemia Neurodevelopmental delay Prominent occiput Large for gestational age Melanocytic nevus Nephroblastoma Redundant skin Relative macrocephaly Arnold-Chiari malformation Sleep apnea Accelerated skeletal maturation Tall stature Omphalocele Cardiomegaly Joint swelling Hypoparathyroidism Cutis laxa Broad chin Poikiloderma Prematurely aged appearance Basal cell carcinoma Urticaria Dermal atrophy Cachexia Diplopia Cutaneous photosensitivity Skin rash Retinopathy Hypotrophy of the small hand muscles Abnormality of hair pigmentation Positional foot deformity Conspicuously happy disposition Arteriosclerosis Pear-shaped nose Narrow palm Prominent fingertip pads Chronic infection Anteverted ears Abnormality of the head Abnormality of hair texture Glioma Spondylolisthesis Slender finger Abnormality of the sternum Vertebral fusion Long fingers Demyelinating peripheral neuropathy Squamous cell carcinoma of the skin Impulsivity Carious teeth Neoplasm of the skin Osteolysis Opacification of the corneal stroma Abnormality of the fingernails Skin ulcer Thickened skin Inflammatory abnormality of the skin Epidermal acanthosis Nail dysplasia Ectodermal dysplasia Hypodontia Palmoplantar keratoderma Ichthyosis Hypotrichosis Abnormality of amino acid metabolism Nail dystrophy Papule Corneal opacity Sparse hair Erythema Carcinoma Hyperkeratosis Hyperhidrosis Severe short stature Alopecia Flexion contracture Pain Numerous pigmented freckles Cortical dysplasia Overfolded helix Hand tremor Hypersexuality Macrotia High forehead Abnormal heart morphology Pectus excavatum Intrauterine growth retardation Hypertension Motor delay Ptosis Atypical or prolonged hepatitis Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Acute hepatitis Poor motor coordination Cleft lip Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Retinoblastoma Proximal muscle weakness in lower limbs Menstrual irregularities Neoplasm of the liver Hyperphosphaturia Esophageal varix Chondrocalcinosis Acute hepatic failure Renal tubular dysfunction Increased reactive oxygen species production Pes planus Intellectual disability, moderate Sparse eyebrow Eczema Elbow dislocation Aortic aneurysm Nasal speech Abnormality of the urinary system Laryngomalacia Abnormality of the genitourinary system Widely spaced teeth Joint dislocation Narrow palate Abnormality of the genital system Open mouth Status epilepticus Hypotelorism Wide intermamillary distance Protruding ear Focal-onset seizure Otitis media Underdeveloped nasal alae Everted lower lip vermilion Small hand High, narrow palate Bulbous nose Arachnodactyly Abnormality of the foot Pulmonic stenosis Hip dislocation Broad forehead Prominent nasal bridge Scarring Agenesis of the anterior commissure


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Syncope, related diseases and genetic alterations