Melanoma, and Everted lower lip vermilion

Diseases related with Melanoma and Everted lower lip vermilion

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


Top matches:

High 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 BLACKFAN-DIAMOND ANEMIA


Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Low match WAGR SYNDROME


WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

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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

Low match BRANCHIO-OCULO-FACIAL SYNDROME


Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.

BRANCHIO-OCULO-FACIAL SYNDROME Is also known as bofs|hemangiomatous branchial clefts-lip pseudocleft syndrome|branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging|bof syndrome|lip pseudocleft-hemangiomatous branchial cyst syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRANCHIO-OCULO-FACIAL SYNDROME

Low match 17Q21.31 MICRODELETION SYNDROME


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

Low match BOHRING-OPITZ SYNDROME


Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

BOHRING-OPITZ SYNDROME Is also known as c-like syndrome|bos syndrome|bohring syndrome|oberklaid-danks syndrome|opitz trigonocephaly-like syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BOHRING-OPITZ SYNDROME

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

Top 5 symptoms//phenotypes associated to Melanoma and Everted lower lip vermilion

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Melanoma and Everted lower lip vermilion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Intrauterine growth retardation Growth delay Cleft palate Cleft lip Seizures Cleft upper lip Low-set ears Hearing impairment Intellectual disability Cataract Ptosis High palate Ventricular septal defect Long philtrum Failure to thrive Oral cleft Hypoplasia of the corpus callosum Atrial septal defect Supernumerary nipple Hydronephrosis Abnormality of the genital system Abnormality of cardiovascular system morphology Wide nasal bridge Short neck Strabismus Broad forehead Scoliosis Generalized hypotonia Short nose Hypospadias Microphthalmia Open mouth Wide intermamillary distance Upslanted palpebral fissure Deep philtrum

Rare Symptoms - Less than 30% cases


Overfolded helix Hernia Posteriorly rotated ears Intellectual disability, severe Gastroesophageal reflux Conductive hearing impairment Epicanthus Delayed speech and language development Pyloric stenosis Joint dislocation Muscular hypotonia Kyphosis Ventriculomegaly Narrow palate Abnormality of the kidney Heterotopia Global developmental delay Small for gestational age Nephroblastoma Abnormality of the genitourinary system Microcornea Abnormal heart morphology Clinodactyly of the 5th finger High, narrow palate Hemangioma Elbow flexion contracture Long face Anteverted ears Flexion contracture Myopia Elbow dislocation Abnormality of the dentition Trigonocephaly Prominent metopic ridge Hypotelorism Single transverse palmar crease High forehead Iris coloboma Bulbous nose Vesicoureteral reflux Dolichocephaly Hip dislocation Prominent nasal bridge Coloboma Protruding ear Muscular hypotonia of the trunk Sacral dimple Nasal speech Cognitive impairment Broad nasal tip Prominent forehead Full cheeks Nevus Tetralogy of Fallot Nystagmus Abnormality of the urinary system Retrognathia Pallor Hydrocephalus Thick hair Short thumb Abnormality of the optic nerve Atrophy of the spinal cord Underdeveloped supraorbital ridges Nevus flammeus Joint hypermobility Mesomelic/rhizomelic limb shortening Small hand Facial hemangioma Ulnar deviation of the wrist Accessory oral frenulum Severe intrauterine growth retardation Underdeveloped nasal alae Otitis media Deep plantar creases Capillary hemangioma Narrow palpebral fissure Severe failure to thrive Hip dysplasia Eczema Status epilepticus Widely spaced teeth Broad alveolar ridges Thoracolumbar scoliosis Abnormal anterior chamber morphology Deep palmar crease Abnormality of the pancreas Focal-onset seizure Camptodactyly of finger Dry skin Motor delay Pectus excavatum Depressivity Absent speech Vomiting Abnormality of the skeletal system Hypertension Fusion of middle ear ossicles Hypothyroidism Ectopic thymus tissue Supraauricular pit Upper lip pit Duplication of internal organs Malrotation of colon Postauricular pit Hyperactivity Macrotia Ulnar deviation of finger Pulmonic stenosis Arachnodactyly Poor speech Nevus flammeus of the forehead Facial capillary hemangioma Abnormality of the foot Hyperechogenic pancreas Hypermetropia Pes planus Abnormal cardiac septum morphology Scarring Blepharophimosis Feeding difficulties in infancy Intellectual disability, moderate Joint laxity Anxiety Bicuspid aortic valve Biparietal narrowing Laryngomalacia Hirsutism Abnormality of hair pigmentation Positional foot deformity Broad chin Synophrys Conspicuously happy disposition Talipes Short nasal septum Feeding difficulties Short foot Tapered finger Limitation of joint mobility Pear-shaped nose Intestinal malrotation Narrow palm Hypotrophy of the small hand muscles Hepatomegaly Dandy-Walker malformation Platyspondyly Apnea Camptodactyly Polyhydramnios Proptosis Severe global developmental delay Cerebral cortical atrophy Narrow chest Optic atrophy Agenesis of corpus callosum Inguinal hernia Recurrent infections Dilatation Syndactyly Talipes equinovarus Convex nasal ridge Narrow forehead Dislocated radial head Short thorax Hypoplasia of the brainstem Slender finger Abnormality of the sternum Vertebral fusion Long fingers Overlapping toe Cortical dysplasia CNS hypomyelination Impulsivity Sparse eyebrow Broad palm Aortic aneurysm Retinopathy Failure to thrive in infancy Spondylolisthesis Glioma Congenital diaphragmatic hernia Hypertrichosis Multifocal epileptiform discharges High myopia Expressive language delay Intellectual disability, profound Prominent fingertip pads Interphalangeal joint contracture of finger Decreased body weight Sleep apnea Chronic infection Short toe Abnormality of the head Bradycardia Low anterior hairline Abnormality of hair texture Enlarged vestibular aqueduct Renal agenesis Auricular pit Reticulocytopenia Obesity Renal insufficiency Cardiomyopathy Visual impairment Persistence of hemoglobin F Fetal distress Cleft soft palate Hypertrophic cardiomyopathy Increased mean corpuscular volume Esophagitis Acute leukemia Tracheomalacia Macrocytic anemia Triphalangeal thumb Glaucoma Corneal opacity Mitral regurgitation Gonadoblastoma Dysfunction of lateral corticospinal tracts Displacement of the external urethral meatus Streak ovary Aplasia/Hypoplasia of the iris Abnormal vagina morphology Peters anomaly Abnormality of the uterus Leukemia Hemihypertrophy Renal neoplasm Hearing abnormality Acute lymphoblastic leukemia Aniridia Ambiguous genitalia Nephropathy Abnormality of the hand Depressed nasal ridge Brachydactyly Sarcoma 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 Round face Abnormality of skin pigmentation Pruritus Papule Narrow nasal ridge Epidermal nevus Thick lower lip vermilion Autistic behavior Ventricular hypertrophy Mitral valve prolapse Migraine Bifid uvula Neutropenia Delayed puberty Autism Prominence of the premaxilla Osteoporosis Arrhythmia Patent ductus arteriosus Fatigue Anemia Nevus spillus Congenital giant melanocytic nevus Abnormal facial shape Frontal bossing Lower lip pit Preauricular pit Bilateral cleft lip Median cleft lip Aplasia cutis congenita Hamartoma Non-midline cleft lip Premature graying of hair Preaxial hand polydactyly Premature skin wrinkling Unilateral renal agenesis Anophthalmia Proximal placement of thumb Preaxial polydactyly Dermal atrophy Reduced number of teeth Atypical scarring of skin Retinal coloboma Multicystic kidney dysplasia Polycoria Branchial anomaly Hypoplastic superior helix Small forehead Dermoid cyst Branchial fistula Lacrimal duct atresia Everted upper lip vermilion Hypoplastic fingernail Abnormality of the philtrum Lacrimal duct stenosis Fingernail dysplasia Nasolacrimal duct obstruction Agenesis of cerebellar vermis Bifid nasal tip White forelock Abnormality of the outer ear Joint contracture of the hand Clinodactyly Finger clinodactyly Abnormality of the gastrointestinal tract Aplasia/Hypoplasia of the thumb Absent septum pellucidum Patent foramen ovale Abnormal dermatoglyphics Holoprosencephaly Wide anterior fontanel Retinoblastoma Webbed neck Thick eyebrow Thin vermilion border Finger syndactyly Wide mouth Thin upper lip vermilion Micropenis Thickened helices Leukocoria Low posterior hairline Postnatal growth retardation Microdontia Hypodontia Renal cyst Pulmonary hypoplasia Neurological speech impairment Microtia Abnormality of the pinna Sensorineural hearing impairment Hyperlordosis Low-set, posteriorly rotated ears Telecanthus Polydactyly Malar flattening Intellectual disability, mild Depressed nasal bridge Delayed peripheral myelination



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