Melanoma, and Toe syndactyly

Diseases related with Melanoma and Toe syndactyly

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

Top matches:

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

Other less relevant matches:

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

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

Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013).

Related symptoms:

  • Seizures
  • Microcephaly
  • Scoliosis
  • Cataract
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEVUS COMEDONICUS SYNDROME

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

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 CMM1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Melanoma
  • Cutaneous melanoma


SOURCES: OMIM MESH MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2

MITF-related melanoma and renal cell carcinoma predisposition syndrome is an inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.

MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME Is also known as melanoma and renal cell carcinoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Melanoma
  • Renal cell carcinoma
  • Cutaneous melanoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITF-RELATED MELANOMA AND RENAL CELL CARCINOMA PREDISPOSITION SYNDROME

SYNPOLYDACTYLY TYPE 2 Is also known as spd2|spd, debeer type|sd2, debeer type|synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses|sd2b|synpolydactyly, debeer type

Related symptoms:

  • Syndactyly
  • Polydactyly
  • Toe syndactyly
  • Tarsal synostosis
  • Carpal synostosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYNPOLYDACTYLY TYPE 2

Top 5 symptoms//phenotypes associated to Melanoma and Toe syndactyly

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Cutaneous melanoma Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Clitoral hypertrophy Polycystic kidney dysplasia Opacification of the corneal stroma Knee flexion contracture Blue sclerae Cleft upper lip Underdeveloped nasal alae Short femoral neck Finger syndactyly Corneal opacity Prominent nasal bridge Sparse hair Radial deviation of finger Low hanging columella Absent radius Severe intrauterine growth retardation Upper limb undergrowth Paralysis Subvalvular aortic stenosis Long penis Phocomelia Wrist flexion contracture Absent earlobe Tetraphocomelia Midface capillary hemangioma Premature separation of centromeric heterochromatin Syndactyly Craniosynostosis Aplasia of the ulna Postnatal growth retardation Microphthalmia Retrognathia Short stature Growth delay Hypertelorism Micrognathia Cleft palate Cryptorchidism Flexion contracture High palate Brachydactyly Short neck Global developmental delay Malar flattening Downslanted palpebral fissures Thrombocytopenia Glaucoma Proptosis Intellectual disability Polyhydramnios Brachycephaly Clinodactyly Posteriorly rotated ears Hand oligodactyly Biliary tract abnormality Bilateral cleft lip Hydranencephaly Bicornuate uterus Narrow naris Eyelid coloboma Craniofacial dysostosis Bilateral cleft lip and palate Epidermal nevus Shallow orbits Accessory spleen Ankle contracture Fibular hypoplasia Oligodactyly Cystic hygroma Anonychia Bilateral talipes equinovarus Eosinophilia Abnormality of the metacarpal bones Cranial nerve paralysis Horseshoe kidney Elbow flexion contracture Metacarpal synostosis Tarsal synostosis Bilateral renal agenesis Abnormality of the foot Pustule Hamartoma Acne Preaxial polydactyly Spina bifida occulta Spina bifida Abnormality of the hair Abnormal vertebral morphology Comedo Epidermal acanthosis Nevus Ichthyosis Papule Carpal synostosis Scarring Alopecia Scoliosis Enlarged labia minora Recurrent urinary tract infections Bilateral radial aplasia Intermittent thrombocytopenia Renal cell carcinoma Frontal encephalocele Talipes equinovalgus Triangular mouth Polydactyly Nevus flammeus Cafe-au-lait spot Skeletal dysplasia Abnormality of the genital system Dilatation Synostosis of carpal bones Underdeveloped supraorbital ridges Hip contracture Aplasia/Hypoplasia of the thumb Absent thumb Congestive heart failure Intellectual disability, mild Proximal placement of thumb Radioulnar synostosis Hypoplasia of the radius Hemangioma Sandal gap Wormian bones Intrauterine growth retardation Abnormality of cardiovascular system morphology Bilateral single transverse palmar creases Aortic valve stenosis Short thumb Bowing of the long bones Hemiparesis Myocardial infarction Premature birth Chest pain Falls Clinodactyly of the 5th finger Hypotrichosis External ear malformation Capillary hemangioma Encephalocele Hydrocephalus Oligohydramnios Convex nasal ridge Renal agenesis Renal cyst Talipes Short philtrum Coloboma Abnormality of the kidney Cleft lip Patent ductus arteriosus Hypospadias Atrial septal defect Talipes equinovarus Fair hair Ventricular septal defect Wide nasal bridge Low-set ears Nystagmus Mesomelic arm shortening Progressive flexion contractures Facial hemangioma Complete duplication of thumb phalanx Pain Humeroradial synostosis Patellar aplasia Abnormality of the upper limb Metatarsal synostosis


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