Melanoma, and Facial asymmetry

Diseases related with Melanoma and Facial asymmetry

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


Top matches:

Low match LARGE CONGENITAL MELANOCYTIC NEVUS


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

Low match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

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Other less relevant matches:

Low match 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 malignant melanoma, see {155600}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

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

Low match MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6


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

Low match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Low match ISOLATED HEMIHYPERPLASIA


Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

Low match CURRY-JONES SYNDROME


Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

Low match SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3


SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3 Is also known as skin/hair/eye pigmentation 3, light/dark skin|skin/hair/eye pigmentation 3, freckling|eye color 1|skin/hair/eye pigmentation 3, blue/green eye color|gey|eycl1|eye color, green/blue

Related symptoms:

  • Cutaneous melanoma


SOURCES: OMIM MENDELIAN

More info about SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3; SHEP3

Top 5 symptoms//phenotypes associated to Melanoma and Facial asymmetry

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Cutaneous melanoma Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Rare Symptoms - Less than 30% cases


Short stature Scoliosis Abnormality of the kidney Ptosis Intellectual disability, mild Abnormality of cardiovascular system morphology Brachycephaly Global developmental delay Hyperkeratosis Myelodysplasia Embryonal neoplasm Myocardial infarction Hemihypertrophy Abnormality of the voice Decreased fertility Nephroblastoma Overgrowth Inguinal hernia Cataract Abnormality of the dentition Micropenis Aplasia/Hypoplasia of the skin Intellectual disability Abnormality of the face Narrow nasal ridge Nevus Hypopigmented skin patches Subcutaneous nodule Sarcoma Generalized hirsutism Melanocytic nevus Hydrocephalus Rhabdomyosarcoma Ventricular septal defect Poliosis White forelock Thyroid carcinoma Enlarged joints Arteriosclerosis Polyhydramnios Chorioretinitis Soft tissue sarcoma Anterior plagiocephaly Abnormal hair whorl Optic nerve coloboma Abnormal heart morphology Neoplasm of the small intestine Subcutaneous calcification Hepatomegaly Gastrointestinal carcinoma Medulloblastoma Premature arteriosclerosis Clinodactyly Neoplasm of the oral cavity Aplasia/Hypoplasia of the testes Splenomegaly Acral lentiginous melanoma Muscle weakness Cleft palate Delayed speech and language development Cutaneous syndactyly of toes Abnormality of the testis Slender build Premature loss of teeth Squamous cell carcinoma High pitched voice Premature graying of hair Polyphagia Lipoatrophy Duplication of thumb phalanx Telangiectasia of the skin Scleroderma Myeloid leukemia Secondary amenorrhea Ovarian neoplasm Prematurely aged appearance Subcapsular cataract Alopecia of scalp Hemimegalencephaly Neoplasm of the lung Pulmonary artery stenosis Posterior subcapsular cataract Progeroid facial appearance Meningioma Renal neoplasm Osteosarcoma Abnormality of the cerebral vasculature Peripheral arterial stenosis Lack of skin elasticity Chondrocalcinosis Pili torti Hypoglycemia Umbilical hernia Arnold-Chiari type I malformation Autistic behavior Agenesis of corpus callosum Asymmetric growth Preaxial polydactyly Asymmetry of the thorax Hepatoblastoma Leiomyosarcoma Hemifacial hypertrophy Hemiareflexia Microcephaly Bilateral ptosis Nystagmus Ventriculomegaly Syndactyly Microphthalmia Polydactyly Pheochromocytoma Narrow palpebral fissure Craniosynostosis Blepharophimosis Coloboma Horizontal nystagmus Finger syndactyly Toe syndactyly Broad thumb Abnormality of the skin Polymicrogyria Hirsutism Iris coloboma Microcornea Adrenocortical adenoma Communicating hydrocephalus Chronic constipation Diastasis recti Macroglossia Premature birth Intestinal malrotation Omphalocele Abnormality of the outer ear Foot polydactyly Anal stenosis Large for gestational age Abnormality of the ureter Enlarged kidney Neonatal hypoglycemia Cutaneous finger syndactyly Nevus flammeus Basal cell carcinoma Myelomeningocele Visceromegaly Abdominal wall defect Rocker bottom foot Anterior creases of earlobe Preaxial hand polydactyly Auricular pit Hernia Bicuspid aortic valve Skeletal muscle hypertrophy Neurofibromas Multiple lipomas Impaired pain sensation Increased circulating cortisol level Polyuria Abnormality of retinal pigmentation Abnormality of the thorax Delayed puberty Short neck Dilatation Hypospadias Pectus excavatum Arrhythmia Delayed skeletal maturation Posteriorly rotated ears Mandibular prognathia Neonatal hypotonia Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Pectus carinatum Pulmonic stenosis Joint hyperflexibility Wide nasal bridge Thick vermilion border Triangular face Webbed neck Specific learning disability Tetralogy of Fallot Mitral valve prolapse Abnormality of the genital system Left ventricular hypertrophy Cafe-au-lait spot Scapular winging Spina bifida occulta Hyperextensible skin Bilateral cryptorchidism Bundle branch block Intrauterine growth retardation Depressed nasal bridge Abnormality of the ear Deep philtrum Failure to thrive Short nose Long philtrum Prominent forehead Broad forehead Papule Pruritus Abnormality of skin pigmentation Everted lower lip vermilion Broad nasal tip Full cheeks Round face Open mouth Neoplasm of the skin Hypermelanotic macule Cognitive impairment Narrow nasal bridge Calvarial skull defect Periorbital fullness Thick hair Epidermal nevus Prominence of the premaxilla Congenital giant melanocytic nevus Nevus spillus Generalized hypotonia Hearing impairment Growth delay Sensorineural hearing impairment Muscular hypotonia Low-set ears External genital hypoplasia Atrioventricular canal defect Polydipsia Decreased body weight Joint stiffness Retinopathy Leukemia Retinal degeneration Nephropathy Small hand Hypopigmentation of the skin Coma Chest pain Convex nasal ridge Decreased testicular size Type II diabetes mellitus Sparse scalp hair Insulin resistance Diabetes mellitus Skin ulcer Abnormality of the hair Narrow face Increased bone mineral density Hoarse voice Hypergonadotropic hypogonadism Spontaneous abortion Type I diabetes mellitus Macular degeneration Atherosclerosis Breast carcinoma Laryngomalacia Dermal atrophy Lipodystrophy Proptosis Hypogonadism Freckling Abnormality of the pulmonary artery Multiple cafe-au-lait spots Neuroblastoma Curly hair Severe sensorineural hearing impairment Sprengel anomaly Premature skin wrinkling Right ventricular hypertrophy Wolff-Parkinson-White syndrome Redundant neck skin Aplasia/Hypoplasia of the abdominal wall musculature Abnormal mitral valve morphology Shield chest Abnormal aortic valve morphology Abnormal localization of kidney Excessive wrinkled skin Osteoporosis Multiple lentigines Abnormal endocardium morphology Abnormal pulmonary valve morphology Hypoplasia of the ovary Numerous nevi Pain Visual impairment Hypertension Peripheral neuropathy Skeletal muscle atrophy Congestive heart failure Behavioral abnormality Alopecia Rod-cone dystrophy Abnormality of thumb phalanx



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