Melanoma, and Anteverted nares

Diseases related with Melanoma and Anteverted nares

In the following list you will find some of the most common rare diseases related to Melanoma and Anteverted nares 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

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM

Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

Other less relevant matches:

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

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

Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic LeukemiaIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (OMIM ), KRAS (OMIM ), and NRAS (OMIM ) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26 ) have also been found in patients with JMML.About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1 ) due to germline mutations in the NF1 gene (OMIM ). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL ) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic LeukemiaSomatic mutations in the CBL, ASXL1 (OMIM ), TET2 (OMIM ), and SF3B1 (OMIM ) genes have been found in patients with CMML.

JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as juvenile chronic myelomonocytic leukemia|jmml|leukemia, juvenile myelomonocytic

Related symptoms:

  • Generalized hypotonia
  • Abnormal facial shape
  • Anemia
  • Anteverted nares
  • Splenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JUVENILE MYELOMONOCYTIC LEUKEMIA

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

OTODENTAL SYNDROME Is also known as globodontia|otodental dysplasia|chromosome 11q13 deletion syndrome|otodental syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTODENTAL 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

Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.

MULTIPLE OSTEOCHONDROMAS Is also known as multiple cartilaginous exostoses|bessel-hagen disease

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE OSTEOCHONDROMAS

Top 5 symptoms//phenotypes associated to Melanoma and Anteverted nares

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Micrognathia Failure to thrive Growth delay Abnormality of the dentition Cleft palate Postnatal growth retardation Sparse hair Retrognathia Downslanted palpebral fissures Cryptorchidism Microphthalmia Sensorineural hearing impairment Cleft upper lip Microcephaly Malar flattening Opacification of the corneal stroma Anemia Hearing impairment Patent ductus arteriosus

Rare Symptoms - Less than 30% cases

Subvalvular aortic stenosis Osteoporosis Abnormality of the genital system Polyhydramnios Proptosis Glaucoma Brachycephaly Posteriorly rotated ears Clinodactyly Thrombocytopenia Dilatation Cranial nerve paralysis Short neck Cleft lip Abnormal facial shape Intrauterine growth retardation Brachydactyly High palate Flexion contracture Pain Leukemia Increased number of teeth Abnormality of the metaphysis Global developmental delay Poikiloderma Coloboma Paralysis Abnormality of the upper limb Long penis Low hanging columella Upper limb undergrowth Severe intrauterine growth retardation Absent radius Short femoral neck Radial deviation of finger Clitoral hypertrophy Polycystic kidney dysplasia Knee flexion contracture Short thumb Phocomelia Craniosynostosis Wrist flexion contracture Aplasia of the ulna Blue sclerae Underdeveloped nasal alae Absent earlobe Tetraphocomelia Midface capillary hemangioma Premature separation of centromeric heterochromatin Corneal opacity Prominent nasal bridge Ventricular septal defect Squamous cell carcinoma Atrial septal defect Hyperkeratosis Cutaneous photosensitivity Scoliosis Telangiectasia Fatigue Erythema Long philtrum Strabismus Neoplasm of the skin Carcinoma Hydrocephalus Hypopigmented skin patches Short nose Abnormality of skin pigmentation Full cheeks Melanocytic nevus Hypermelanotic macule Hypogonadism Alopecia Prominent forehead Feeding difficulties Visual impairment Chronic myelomonocytic leukemia Frontal bossing Acute myelomonocytic leukemia Edema Juvenile myelomonocytic leukemia Hyperhidrosis Vomiting Basal cell carcinoma Lamellar cataract Acantholysis Concave nasal ridge Osteosarcoma Alopecia of scalp Severe vision loss Striae distensae Erythroderma Diarrhea Sparse scalp hair Eczema Overgrowth Abnormal blistering of the skin Hypopigmentation of the skin Skin rash Osteopenia Monocytosis Conjunctivitis Refractory anemia Thick lower lip vermilion Macrocytic anemia Triphalangeal thumb Abnormality of the hand Abnormality of the urinary system Mitral regurgitation Depressed nasal ridge Ventricular hypertrophy Acute leukemia Mitral valve prolapse Tetralogy of Fallot Migraine Bifid uvula Neutropenia Delayed puberty Autistic behavior Tracheomalacia Esophagitis Myeloproliferative disorder Myelodysplasia Acute monocytic leukemia Carious teeth Facial hypotonia Acute myeloid leukemia Myeloid leukemia Neurofibromas Narrow mouth Increased mean corpuscular volume Splenomegaly Broad forehead Generalized hypotonia Persistence of hemoglobin F Fetal distress Reticulocytopenia Cleft soft palate Acrokeratosis Bilateral sensorineural hearing impairment Long face Elliptocytosis Micromelia Genu valgum Abnormal pyramidal sign Muscle weakness Erythrocyte cylindruria Craniopharyngioma Abnormal aortic valve morphology Osteoarthritis Microscopic hematuria Glomerulopathy Nephritis Abnormality of the hair Tapered finger Hematuria Recurrent fractures Bone pain Thin vermilion border Abnormality of femur morphology Synostosis of joints Abnormal pericardium morphology Chondrosarcoma Multiple exostoses Madelung deformity Abnormality of the humerus Abnormality of tibia morphology Osteolysis Radial bowing Exostoses Aseptic necrosis Hypoplasia of the ulna Hemiplegia/hemiparesis Elbow dislocation Abnormality of pelvic girdle bone morphology Thick vermilion border Stage 5 chronic kidney disease Iris coloboma Abnormality of dental enamel Retinal coloboma Periodontitis Taurodontia Ankylosis Progressive sensorineural hearing impairment Progressive hearing impairment Gingival overgrowth Macrodontia Hypoplasia of dental enamel Autism Ectodermal dysplasia Hypodontia Microcornea Delayed eruption of teeth High-frequency hearing impairment Pulp stones Proteinuria Muscular hypotonia Midface retrusion Renal insufficiency Intellectual disability, severe Macrocephaly Myopia Depressed nasal bridge Abnormality of the dental pulp High-frequency sensorineural hearing impairment Abnormality of molar morphology Abnormality of canine Abnormality of the maxilla Otitis media with effusion Agenesis of premolar Lens coloboma Odontoma Pallor Bilateral renal agenesis Papule Spasticity Ataxia Premature birth Chest pain Falls Hypotrichosis Finger syndactyly Cognitive impairment Hemiparesis Peripheral neuropathy Fever Optic atrophy Hyporeflexia Delayed skeletal maturation Cerebral cortical atrophy Myocardial infarction Bowing of the long bones Arthralgia Prominence of the premaxilla Absent thumb Narrow nasal ridge Cutaneous melanoma Proximal placement of thumb Epidermal nevus Radioulnar synostosis Hypoplasia of the radius Nevus spillus Hemangioma Sandal gap Wormian bones Congenital giant melanocytic nevus Bilateral single transverse palmar creases Aortic valve stenosis Clinodactyly of the 5th finger Photophobia Hip contracture Freckling Conjunctival telangiectasia Entropion Craniofacial hyperostosis Bone marrow hypocellularity Blepharitis Telangiectasia of the skin Macule Ankyloblepharon Aminoaciduria Keratitis Ectropion Pterygium Dermal atrophy Reduced tendon reflexes Papilloma Defective DNA repair after ultraviolet radiation damage Abnormality of cardiovascular system morphology Decreased testicular size EEG abnormality Mental deterioration Intellectual disability, mild Congestive heart failure Developmental regression Dry skin Abnormality of extrapyramidal motor function Neoplasm of the eye Choreoathetosis Thin skin Nystagmus Thickened skin Abnormal vertebral morphology Flat nasal alae Aplasia/Hypoplasia of the thumb Thick hair Arrhythmia Eosinophilia Ankle contracture Fibular hypoplasia Oligodactyly Cystic hygroma Anonychia Bilateral talipes equinovarus Abnormality of the metacarpal bones Bilateral cleft lip Pruritus Horseshoe kidney Elbow flexion contracture Cafe-au-lait spot Recurrent urinary tract infections Encephalocele Shallow orbits Bilateral cleft lip and palate Convex nasal ridge Intellectual disability, progressive Enlarged labia minora Bilateral radial aplasia Intermittent thrombocytopenia Frontal encephalocele Talipes equinovalgus Triangular mouth Accessory spleen Eyelid coloboma Craniofacial dysostosis Narrow naris Hydranencephaly Hand oligodactyly Biliary tract abnormality Bicornuate uterus Oligohydramnios Renal agenesis Underdeveloped supraorbital ridges Narrow nasal bridge Facial hemangioma Complete duplication of thumb phalanx Sarcoma Humeroradial synostosis Deep philtrum Patellar aplasia Fair hair Mesomelic arm shortening Calvarial skull defect Capillary hemangioma Periorbital fullness Rhabdomyosarcoma External ear malformation Synostosis of carpal bones Progressive flexion contractures Generalized hirsutism Renal cyst Hypospadias Talipes Short philtrum Everted lower lip vermilion Abnormality of the kidney Broad nasal tip Skeletal dysplasia Syndactyly Subcutaneous nodule Nevus Talipes equinovarus Round face Wide nasal bridge Low-set ears Open mouth Pelvic bone exostoses


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