Melanoma, and Open mouth

Diseases related with Melanoma and Open mouth

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

Top matches:

A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).

ROBERTS SYNDROME; RBS Is also known as long bone deficiencies associated with cleft lip-palate

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBERTS SYNDROME; RBS

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Other less relevant matches:

Low match MONOSOMY 13Q14

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of malignant melanoma, see {155600}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see {155600}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6

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

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Top 5 symptoms//phenotypes associated to Melanoma and Open mouth

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Melanoma and Open mouth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism High palate Generalized hypotonia Global developmental delay Long philtrum Cleft palate High forehead Ptosis Cryptorchidism Ventricular septal defect Broad forehead Micrognathia Hydronephrosis Cataract Epicanthus Short stature Microcephaly Hypoplasia of the corpus callosum Wide nasal bridge Posteriorly rotated ears Short neck Atrial septal defect Hypospadias Clinodactyly High, narrow palate Polyhydramnios Retrognathia Cleft lip Prominent nasal bridge Cleft upper lip Dolichocephaly Abnormal heart morphology Abnormal facial shape Depressed nasal bridge Anteverted nares Hypothyroidism Protruding ear Abnormality of cardiovascular system morphology Delayed speech and language development Cognitive impairment Scoliosis Hearing impairment Everted lower lip vermilion Failure to thrive Short nose Prominent forehead

Rare Symptoms - Less than 30% cases

Anteverted ears Overfolded helix Webbed neck Hypotelorism Holoprosencephaly Pyloric stenosis Nasal speech Thickened helices Flexion contracture Deep philtrum Thin vermilion border Macrocephaly Brachydactyly Narrow palate Abnormality of the dentition Wide intermamillary distance Polycystic kidney dysplasia Bulbous nose Ventriculomegaly Hip dislocation Hernia Impulsivity Laryngomalacia Muscular hypotonia Intrauterine growth retardation Frontal bossing Intellectual disability, severe Apnea Thin upper lip vermilion Muscular hypotonia of the trunk Broad nasal tip Upslanted palpebral fissure Absent speech Round face Clinodactyly of the 5th finger Abnormality of the skeletal system Flat face Hyperlordosis Fibular hypoplasia Long face Brachycephaly Pectus excavatum Coloboma Craniosynostosis Paralysis Abnormality of the kidney Skeletal dysplasia Conductive hearing impairment Lumbar hyperlordosis Patent ductus arteriosus Microphthalmia Syndactyly Talipes equinovarus Nephroblastoma Downslanted palpebral fissures Growth delay Status epilepticus Underdeveloped nasal alae Oligohydramnios Arachnodactyly Specific learning disability Abnormality of the genital system Pes planus Motor delay Abnormal cardiac septum morphology Strabismus Prominent xiphoid process Scarring Dry skin Focal-onset seizure Oral cleft Anxiety Blepharophimosis Joint laxity Hypertension Distal ileal atresia Otitis media Pallor Ileal atresia Nephrogenic rest Intellectual disability, moderate Feeding difficulties in infancy Vesicoureteral reflux Kyphosis Small hand Slender finger Narrow palpebral fissure Macrotia Pulmonic stenosis Widely spaced teeth Depressivity Sacral dimple Prominent metopic ridge Bicuspid aortic valve Abnormality of the genitourinary system Abnormality of the urinary system Joint dislocation Poor speech Failure to thrive in infancy Aortic aneurysm Elbow dislocation Abnormality of the foot Sparse eyebrow Hypermetropia Heterotopia Joint hypermobility Long fingers Eczema Small for gestational age Vomiting Hip dysplasia Vertebral fusion Abnormality of the sternum Hyperactivity Cortical dysplasia Gastroesophageal reflux Spondylolisthesis Thickened calvaria Echolalia Misalignment of teeth Osteopetrosis Pierre-Robin sequence Ankylosis Tracheomalacia Anal stenosis Submucous cleft hard palate Natal tooth Partial agenesis of the corpus callosum Thoracic dysplasia Mixed hearing impairment Visual field defect Hypoplastic left heart Dysphasia Aphasia Delayed cranial suture closure Hyperostosis Flat occiput Metaphyseal widening Increased susceptibility to fractures Ectopic anus Broad ribs Cutaneous syndactyly Alobar holoprosencephaly Straight clavicles Metaphyseal striations Osteopathia striata Facial hyperostosis High iliac wings Unilateral facial palsy Laryngeal web Craniofacial osteosclerosis Large iliac wings Laryngotracheomalacia Broad clavicles Large forehead Rough bone trabeculation Flexion contracture of toe Asymmetry of the thorax Sclerosis of skull base Thoracolumbar kyphosis Otosclerosis Fibular aplasia Delayed closure of the anterior fontanelle White forelock Facial paralysis Mutism Spina bifida occulta Glioma Abnormality of hair pigmentation Camptodactyly Facial palsy Hypoplasia of the abdominal wall musculature Severe short stature Dilatation Headache Intellectual disability, mild Myopathy Pain Hypotrophy of the small hand muscles Positional foot deformity Ophthalmoplegia Broad chin Conspicuously happy disposition Pear-shaped nose Narrow palm Multifocal epileptiform discharges Expressive language delay Prominent fingertip pads Chronic infection Abnormality of the head Abnormality of hair texture Microtia Anal atresia Osteolysis Aganglionic megacolon Microretrognathia Spontaneous abortion Multicystic kidney dysplasia Spina bifida Increased bone mineral density Joint contracture of the hand Aortic valve stenosis Abnormal vertebral morphology Dental crowding Large fontanelles Omphalocele Thick vermilion border Abnormality of the metaphysis Thick lower lip vermilion Coarctation of aorta Narrow forehead Cerebral calcification Abnormality of the skin Dental malocclusion Intestinal malrotation Bifid uvula Delayed eruption of teeth Renal hamartoma Agenesis of corpus callosum Naevus flammeus of the eyelid Oligodactyly Low hanging columella Bilateral cleft lip Upper limb undergrowth Shallow orbits Severe intrauterine growth retardation Ankle contracture Absent radius Cystic hygroma Eyelid coloboma Short femoral neck Anonychia Bilateral talipes equinovarus Radial deviation of finger Clitoral hypertrophy Eosinophilia Abnormality of the metacarpal bones Cranial nerve paralysis Bilateral cleft lip and palate Bicornuate uterus Knee flexion contracture Bilateral renal agenesis Bilateral radial aplasia Intermittent thrombocytopenia Frontal encephalocele Absent earlobe Talipes equinovalgus Aplasia of the ulna Triangular mouth Accessory spleen Subvalvular aortic stenosis Craniofacial dysostosis Narrow naris Wrist flexion contracture Hydranencephaly Phocomelia Hand oligodactyly Biliary tract abnormality Long penis Opacification of the corneal stroma Horseshoe kidney Enlarged labia minora Sarcoma Thick hair Rhabdomyosarcoma Periorbital fullness Calvarial skull defect Narrow nasal bridge Hypermelanotic macule Melanocytic nevus Hypopigmented skin patches Cutaneous melanoma Neoplasm of the skin Generalized hirsutism Subcutaneous nodule Nevus Full cheeks Abnormality of skin pigmentation Pruritus Papule Narrow nasal ridge Epidermal nevus Elbow flexion contracture Corneal opacity Cafe-au-lait spot Recurrent urinary tract infections Encephalocele Blue sclerae Convex nasal ridge Renal agenesis Renal cyst Talipes Short philtrum Prominence of the premaxilla Sparse hair Postnatal growth retardation Proptosis Glaucoma Thrombocytopenia Malar flattening Nevus spillus Congenital giant melanocytic nevus Tetraphocomelia Midface capillary hemangioma Abnormality of pancreas morphology Renal dysplasia Large for gestational age Hyperinsulinemia Growth abnormality Tented upper lip vermilion Bilateral single transverse palmar creases Hepatic fibrosis Tall stature Cardiomegaly Neurodevelopmental delay Congenital diaphragmatic hernia Hypoplasia of penis Abnormality of the cardiovascular system Overgrowth Macroglossia Abdominal distention Ascites Smooth philtrum Global brain atrophy Hamartoma Deeply set eye Intestinal atresia Nephroblastomatosis Thymus hyperplasia Fetal ascites Abnormality of upper lip Lumbar scoliosis Long upper lip Pancreatic islet-cell hyperplasia Broad alveolar ridges Femoral hernia Enlarged kidney Interrupted aortic arch Visceromegaly Hypoxemia Volvulus Thick upper lip vermilion Renal neoplasm Polysplenia Capillary hemangioma Abnormality of the pinna Hepatosplenomegaly Premature separation of centromeric heterochromatin Clumsiness Ganglioneuroblastoma Pontocerebellar atrophy Inverted nipples Hyperbilirubinemia Paraparesis Bradycardia Postnatal microcephaly Apraxia Wide mouth Delayed myelination Inability to walk Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Hypoglycemia Feeding difficulties Spasticity Ataxia Micropenis Finger syndactyly Inguinal hernia Aplasia/Hypoplasia of the thumb Cerebral atrophy Renal insufficiency Edema Respiratory distress Hepatomegaly Leukocoria Retinoblastoma Abnormality of the gastrointestinal tract Absent septum pellucidum Thick eyebrow Supernumerary nipple Trigonocephaly Patent foramen ovale Abnormal dermatoglyphics Finger clinodactyly Wide anterior fontanel Single transverse palmar crease Iris coloboma Paranasal sinus hypoplasia


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