Melanoma, and Arachnodactyly

Diseases related with Melanoma and Arachnodactyly

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

Top matches:

Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.

PAPILLON-LEFÈVRE SYNDROME Is also known as keratosis palmoplantar-periodontopathy syndrome|pls|keratosis palmoplantaris with periodontopathia

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Recurrent respiratory infections
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PAPILLON-LEFÈVRE SYNDROME

Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

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

Other less relevant matches:

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

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

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME Is also known as ats-mr|chromosome xq22.3 telomeric deletion syndrome|amme syndrome|alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|amme complex

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA 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

Top 5 symptoms//phenotypes associated to Melanoma and Arachnodactyly

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cataract Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Macrocephaly Abnormality of the dentition Generalized hypotonia Abnormality of the skeletal system Microcephaly Global developmental delay Abnormal facial shape Cleft upper lip Pectus excavatum Cryptorchidism Ptosis High palate Depressed nasal bridge Anteverted nares Hypoplasia of the corpus callosum Hypertelorism Hydrocephalus Downslanted palpebral fissures Epicanthus Cleft palate Narrow palate Seizures Cerebral calcification Scoliosis High forehead Hypothyroidism Cleft lip

Rare Symptoms - Less than 30% cases

Abnormal heart morphology Ventriculomegaly Hydronephrosis Conductive hearing impairment Nephroblastoma Motor delay Delayed speech and language development Long philtrum Low-set ears Cognitive impairment Failure to thrive Atrial septal defect Ventricular septal defect Abnormality of cardiovascular system morphology Vomiting Short stature Nail dystrophy Broad forehead Hypotrichosis Tapered finger Abnormality of the metaphysis Thick vermilion border Thin vermilion border Patent ductus arteriosus Intellectual disability, severe Hamartomatous polyposis Nephritis Spina bifida occulta Spina bifida Hyperpigmentation of the skin Facial palsy Proteinuria Retrognathia Brachycephaly Dental crowding Pyloric stenosis Oral cleft Long face High, narrow palate Wide intermamillary distance Open mouth Nasal speech Overfolded helix Syndactyly Long fingers Vertebral fusion Abnormality of the sternum Micrognathia Wide nasal bridge Frontal bossing Exotropia Abdominal pain Glaucoma Osteolysis Hyperactivity Visual loss Microphthalmia Kyphosis Sparse body hair Macrotia Intellectual disability, moderate Palmoplantar keratoderma Ataxia Fragile nails Carcinoma Neoplasm of the skin Coloboma Papule Abnormality of the fingernails Carious teeth Flat occiput Intestinal malrotation Bifid uvula Broad nasal tip Delayed eruption of teeth Metaphyseal widening Flat face Hypertrichosis Anal atresia Webbed neck Ophthalmoplegia Hyperostosis Delayed cranial suture closure Aphasia Dysphasia Hypoplastic left heart Dolichocephaly Dental malocclusion Multicystic kidney dysplasia Spontaneous abortion Cutaneous syndactyly Increased bone mineral density Microretrognathia Joint contracture of the hand Holoprosencephaly Aortic valve stenosis Abnormal vertebral morphology Large fontanelles Aganglionic megacolon Omphalocele Specific learning disability Mutism Microtia Thick lower lip vermilion Lumbar hyperlordosis Coarctation of aorta Oligohydramnios Increased susceptibility to fractures Narrow forehead Abnormality of the skin Falls Craniosynostosis Palmar pits Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Short distal phalanx of the thumb Cardiac fibroma Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Cervical ribs Supernumerary ribs Ectopic calcification Bridged sella turcica Irregular ossification of hand bones Paralysis Severe short stature Mixed hearing impairment Hyperlordosis Apnea Camptodactyly Skeletal dysplasia Gastroesophageal reflux Polyhydramnios Prominent forehead Posteriorly rotated ears Clinodactyly of the 5th finger Hamartomatous stomach polyps Abnormality of the nail Clinodactyly Dilatation Headache Intellectual disability, mild Myopathy Generalized hirsutism Short neck Talipes equinovarus Flexion contracture Visual field defect Tracheomalacia Partial agenesis of the corpus callosum Alopecia Hypocalcemia Lymphedema Anorexia Nail dysplasia Abnormality of skin pigmentation Paresthesia Malabsorption Autoimmunity Weight loss Splenomegaly Cachexia Diarrhea Edema Fatigue Hepatomegaly Anemia Muscle weakness Erythrocyte cylindruria Craniopharyngioma Elliptocytosis Abnormal intestine morphology Hypokalemia Microscopic hematuria Clubbing of fingers Gastrointestinal carcinoma Glossitis Patchy alopecia Peripheral edema Stomach cancer Protein-losing enteropathy Intestinal polyposis Dystrophic fingernails Furrowed tongue Dystrophic toenail Hypoalbuminemia Hematochezia Hypomagnesemia Abnormality of the vasculature Xerostomia Thromboembolism Generalized hyperpigmentation Colon cancer Aplasia/Hypoplasia of the eyebrow Hypoplastic toenails Clubbing Abnormal aortic valve morphology Increased number of teeth Thickened calvaria Thoracic dysplasia Sclerosis of skull base Thoracolumbar kyphosis Otosclerosis Fibular aplasia Delayed closure of the anterior fontanelle White forelock Facial paralysis Large forehead Broad ribs Ectopic anus Flexion contracture of toe Echolalia Misalignment of teeth Osteopetrosis Pierre-Robin sequence Ankylosis Astrocytoma Fibular hypoplasia Anal stenosis Submucous cleft hard palate Natal tooth Asymmetry of the thorax Rough bone trabeculation Glomerulopathy Paranasal sinus hypoplasia Abnormality of the hair Hematuria Stage 5 chronic kidney disease Midface retrusion Malar flattening Renal insufficiency Myopia Muscular hypotonia Sensorineural hearing impairment Straight clavicles Broad clavicles Metaphyseal striations Osteopathia striata Facial hyperostosis High iliac wings Unilateral facial palsy Laryngeal web Craniofacial osteosclerosis Large iliac wings Laryngotracheomalacia Alobar holoprosencephaly Medulloblastoma Down-sloping shoulders Brain neoplasm Depressivity Feeding difficulties in infancy Joint laxity Anxiety Nystagmus Hyperkeratosis Pes planus Upslanted palpebral fissure Hyperhidrosis Recurrent respiratory infections Hypospadias Protruding ear Absent speech Tremor Blindness Hypertonia Agenesis of corpus callosum Hypogonadism Intrauterine growth retardation Diabetes mellitus Hypertension Pallor Blepharophimosis Gait ataxia Halitosis Otitis media Underdeveloped nasal alae Vesicoureteral reflux Everted lower lip vermilion Small hand Severe periodontitis Bulbous nose Joint hypermobility Chronic furunculosis Atrophy of alveolar ridges Scarring Dry skin Poor speech Abnormality of the foot Pulmonic stenosis Hypermetropia Hip dislocation Small for gestational age Prominent nasal bridge Abnormal cardiac septum morphology Micropenis Reduced visual acuity Choroid plexus calcification Type I diabetes mellitus Adrenal insufficiency Albinism Anophthalmia Ectopia lentis Bilateral ptosis Anosmia Optic nerve hypoplasia Opacification of the corneal stroma Attention deficit hyperactivity disorder Congenital cataract Aniridia Amblyopia Smooth philtrum Renal dysplasia Recurrent urinary tract infections Choanal atresia Dandy-Walker malformation Microcornea Hypopigmentation of the skin Retinal detachment Hypopituitarism Limb hypertonia Rigidity Retinal vascular tortuosity Muscular hypotonia of the trunk Increased proinsulin:insulin ratio Hypoplasia of the antihelix Aplasia/Hypoplasia of the macula Lumbar kyphosis Aphakia Central adrenal insufficiency Vascular tortuosity Macular hypoplasia Central hypothyroidism Hypoplasia of the iris Lower limb hypertonia Abnormal glucose tolerance Ocular pain Decreased light- and dark-adapted electroretinogram amplitude Peters anomaly Hyposmia Ectopia pupillae Action tremor Hypoplasia of the fovea Hand tremor Focal-onset seizure Hip dysplasia Ulcerative colitis Palmoplantar hyperkeratosis Hemiparesis Abnormality of the ribs Hypotension Nevus Postaxial polydactyly Iris coloboma Sparse hair Recurrent skin infections Telecanthus EEG abnormality Bradycardia Coarse facial features Reduced number of teeth Kyphoscoliosis Mandibular prognathia Proptosis Polydactyly Scaling skin Keratitis Squamous cell carcinoma Erythema Hypopigmented skin patches Pustule Colitis Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Skin tags Polymicrogyria Narrow nose Sprengel anomaly Thoracic scoliosis Agenesis of permanent teeth Short ribs Basal cell carcinoma Milia Disproportionate tall stature Inflammation of the large intestine Melanocytic nevus Glomerulonephritis Relative macrocephaly Hemivertebrae Hypogonadotrophic hypogonadism Muscle stiffness Premature loss of teeth Gingivitis Eczema Abnormality of the genitourinary system Plantar hyperkeratosis Sparse eyebrow Elbow dislocation Aortic aneurysm Failure to thrive in infancy Liver abscess Cigarette-paper scars Abnormality of the urinary system Laryngomalacia Bicuspid aortic valve Cortical dysplasia Sacral dimple Widely spaced teeth Narrow palpebral fissure Joint dislocation Heterotopia Abnormality of the genital system Recurrent cutaneous abscess formation Status epilepticus Hypotelorism Impulsivity Premature loss of primary teeth Brachydactyly Narrow palm Dysarthria Spasticity Periodontitis Hypotrophy of the small hand muscles Abnormality of hair pigmentation Positional foot deformity Broad chin Conspicuously happy disposition Pear-shaped nose Multifocal epileptiform discharges Stomatitis Expressive language delay Prominent fingertip pads Chronic infection Anteverted ears Abnormality of the head Abnormality of hair texture Glioma Spondylolisthesis Prominent metopic ridge Slender finger Decreased taste sensation


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