Melanoma, and Spina bifida

Diseases related with Melanoma and Spina bifida

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

Top matches:

Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

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

Other less relevant 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

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

X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.

X-LINKED CONGENITAL GENERALIZED HYPERTRICHOSIS Is also known as chromosome xq27.1 interchromosomal insertion syndrome|hcg|congenital generalized hypertrichosis, macias-flores type|cgh|macias flores-garcia cruz-rivera syndrome

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Abnormality of the dentition
  • Skeletal dysplasia
  • Hirsutism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about X-LINKED CONGENITAL GENERALIZED HYPERTRICHOSIS

Top 5 symptoms//phenotypes associated to Melanoma and Spina bifida

Symptoms // Phenotype % cases
Neoplasm Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Cutaneous melanoma Uncommon - Between 30% and 50% cases
Nevus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Intellectual disability Spina bifida occulta Melanocytic nevus Hearing impairment Global developmental delay Generalized hypotonia Scapular winging Abnormality of the pulmonary artery Abnormal localization of kidney Abnormal aortic valve morphology Shield chest Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Redundant neck skin Wolff-Parkinson-White syndrome Right ventricular hypertrophy Premature skin wrinkling Sprengel anomaly Severe sensorineural hearing impairment Curly hair Multiple cafe-au-lait spots Neuroblastoma Cafe-au-lait spot Freckling Atrioventricular canal defect Abnormality of the genital system Abnormality of the face Abnormality of the ear External genital hypoplasia Bundle branch block Bilateral cryptorchidism Abnormality of the voice Myelodysplasia Subcutaneous nodule Left ventricular hypertrophy Hyperextensible skin Decreased fertility Abnormal pulmonary valve morphology Excessive wrinkled skin Abnormality of the dentition Hamartoma Pustule Nevus flammeus Epidermal nevus Comedo Renal cell carcinoma Skeletal dysplasia Preaxial polydactyly Hirsutism Overgrowth Hypertrichosis Agenesis of permanent teeth Gingival fibromatosis Generalized hypertrichosis Acne Abnormality of the hair Multiple lentigines Alopecia Abnormal endocardium morphology Mitral valve prolapse Hypoplasia of the ovary Numerous nevi Microcephaly Cataract Scarring Abnormal vertebral morphology Finger syndactyly Papule Toe syndactyly Abnormality of the foot Ichthyosis Epidermal acanthosis Myocardial infarction Thick vermilion border Tetralogy of Fallot Generalized hyperpigmentation Increased intracranial pressure Encephalitis Intracranial hemorrhage Chorioretinal coloboma Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Syringomyelia Renal hypoplasia/aplasia Arachnoid cyst Meningocele Spinal cord compression Meningioma Astrocytoma Papilloma Arnold-Chiari malformation Venous thrombosis Numerous congenital melanocytic nevi EEG abnormality Ataxia Spasticity Hypertension Ventriculomegaly Hydrocephalus Behavioral abnormality Abnormality of the nervous system Cranial nerve paralysis Mental deterioration Dandy-Walker malformation Hemiparesis Thickened skin Abnormality of retinal pigmentation Generalized hirsutism Choroid plexus papilloma Short stature Specific learning disability Low-set, posteriorly rotated ears Posteriorly rotated ears Brachycephaly Hyperkeratosis Mandibular prognathia Neonatal hypotonia Hypertrophic cardiomyopathy Abnormality of the kidney Arrhythmia Pectus carinatum Pulmonic stenosis Delayed puberty Joint hyperflexibility Triangular face Webbed neck Delayed skeletal maturation Pectus excavatum Growth delay Cognitive impairment Hypertelorism Sensorineural hearing impairment Muscular hypotonia Cryptorchidism Ptosis Low-set ears Depressed nasal bridge Hypospadias Wide nasal bridge Intrauterine growth retardation Short neck Intellectual disability, mild Dilatation Abnormality of cardiovascular system morphology Congenital, generalized hypertrichosis


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