Melanoma, and Macroglossia

Diseases related with Melanoma and Macroglossia

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


Top matches:

Medium match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match LHERMITTE-DUCLOS DISEASE


Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

LHERMITTE-DUCLOS DISEASE Is also known as dysplastic gangliocytoma of the cerebellum|ldd

Related symptoms:

  • Seizures
  • Ataxia
  • Macrocephaly
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET MENDELIAN

More info about LHERMITTE-DUCLOS DISEASE

Low match ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY


Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.

ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY Is also known as isolated thyrotropin deficiency|thyrotropin deficiency, isolated|pituitary cretinism|isolated tsh deficiency|tsh deficiency|thyroid-stimulating hormone deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Depressed nasal bridge
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY

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Other less relevant matches:

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2


In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh|thyroid agenesis|thyrotropin resistance|resistance to thyrotropin|thyroid, ectopic|hypothyroidism, athyreotic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid hypoplasia|thyroid dysgenesis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

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 HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME


Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.

HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME Is also known as hhml

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: ORPHANET MENDELIAN

More info about HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME

Low match TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME


Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

Top 5 symptoms//phenotypes associated to Melanoma and Macroglossia

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Overgrowth Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Umbilical hernia Hypothyroidism Enlarged kidney Nephroblastoma

Rare Symptoms - Less than 30% cases


Ventricular septal defect Ovarian neoplasm Papule Nausea and vomiting Joint hypermobility Polymicrogyria Abnormality of the skeletal system Cranial nerve paralysis Increased intracranial pressure Large for gestational age Goiter Hand polydactyly Multiple lipomas Hydrocele testis Megalencephaly Hoarse cry Acrokeratosis Inguinal hernia Fibroadenoma of the breast Abnormality of the kidney Trichilemmoma Muscular hypotonia Constipation Abnormal heart morphology Abdominal distention Growth hormone deficiency Omphalocele Congenital hypothyroidism Enlarged cerebellum Neoplasm of the thyroid gland Carcinoma Delayed speech and language development Short stature Global developmental delay Hearing impairment Scoliosis Hydrocephalus Ataxia Hypertelorism Downslanted palpebral fissures Headache Intellectual disability, mild Muscle weakness Hypothalamic hypothyroidism Facial asymmetry Failure to thrive Splenomegaly Clinodactyly Pseudohypoparathyroidism Pituitary hypothyroidism Micropenis Polyhydramnios Hypoglycemia Autistic behavior Severe postnatal growth retardation Cryptorchidism Premature birth Abnormality of the face Abnormality of the outer ear Hypopituitarism Abnormality of the ureter Intellectual disability, progressive Wide anterior fontanel Neonatal hypoglycemia Nevus flammeus Hepatomegaly Cleft palate Craniopharyngioma Stridor Narcolepsy Growth delay Delayed skeletal maturation Feeding difficulties in infancy Lethargy Dry skin Abnormal vertebral morphology Bradycardia Hyperbilirubinemia Myotonia Thyroid hemiagenesis Spondyloepiphyseal dysplasia Micrognathia Hypothermia Thyroid hypoplasia Increased thyroid-stimulating hormone level Hemihypertrophy Ectopic thyroid Thyroid agenesis Large posterior fontanelle Thyroid dysgenesis Diastasis recti Abdominal wall defect Visceromegaly Round face Hernia Macrotia Pes planus Deeply set eye Protruding ear Coloboma Talipes Astigmatism Thick vermilion border Neutropenia Renal cyst Intestinal malrotation Talipes equinovarus Mitral valve prolapse Renal dysplasia Tall stature Spina bifida Spina bifida occulta Large hands Bowing of the legs Long foot Varicose veins Retinal coloboma Long hallux Renal malrotation Midface retrusion Epicanthus Rhabdomyosarcoma Seborrheic dermatitis Pain Anterior creases of earlobe Embryonal neoplasm Auricular pit Syndactyly Polydactyly Microtia Nevus Lipoatrophy Telangiectasia of the skin Foot polydactyly Abnormality of the cerebral vasculature Advanced eruption of teeth Abnormal facial shape Abnormality of the lymphatic system Capillary malformation Hemimegalencephaly Epidermal nevus Macrodactyly 2-4 toe syndactyly Hyperparakeratosis Ovarian serous cystadenoma Abnormal venous morphology Hemimacroglossia Strabismus Sensorineural hearing impairment Large fontanelles Sleep disturbance Cataract Cellulitis Palmoplantar hyperkeratosis Incoordination Dysdiadochokinesis Intracranial hemorrhage Myopathy Melanocytic nevus Cutis marmorata Macule Abnormality of the thyroid gland Atrial septal defect Cystic hygroma Multiple cafe-au-lait spots Breast carcinoma Acute myeloid leukemia Hamartoma Hyperthyroidism Thyroiditis Hodgkin lymphoma Renal cell carcinoma Hashimoto thyroiditis Scaphocephaly Lipoma Abnormality of the vasculature Papilledema Prolactin excess Diarrhea Hypopigmented skin patches Frontal bossing Decreased antibody level in blood Proximal muscle weakness Leukemia Narrow mouth Autism Pectus excavatum Recurrent infections Palmoplantar keratoderma Hypoplasia of the maxilla Abnormal cerebellum morphology Dilatation Lymphoma Intention tremor Kyphosis Broad thumb Subcutaneous nodule Telangiectasia Chronic diarrhea Exotropia Cafe-au-lait spot Gynecomastia Lymphopenia Neoplasm of the skin Immunodeficiency Drooling Hemangioma Skin tags Meningioma Low-set ears Ductal carcinoma in situ Progressive macrocephaly Pseudopapilledema Mucosal telangiectasiae Transitional cell carcinoma of the bladder Skeletal muscle atrophy Myopia Cutis marmorata telangiectatica congenita Brachydactyly Motor delay Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Merkel cell skin cancer Endometrial carcinoma Multiple trichilemmomata Lobular carcinoma in situ Feeding difficulties Depressed nasal bridge Fatigue Intellectual disability, severe Abnormality of metabolism/homeostasis High palate Coarse facial features Cognitive impairment Jaundice Intellectual disability, moderate Colorectal polyposis Follicular thyroid carcinoma Tremor Papilloma Arteriovenous malformation Furrowed tongue Abnormality of the uterus Astrocytoma Ovarian cyst Intestinal polyposis Bone cyst Cellular immunodeficiency Long penis Cavernous hemangioma Enlarged polycystic ovaries Hamartomatous polyposis Varicocele Fibroma Generalized hyperkeratosis Neoplasm of the central nervous system Decreased proportion of CD4-positive T cells Adenoma sebaceum Colonic diverticula Subcutaneous lipoma Abnormality of the penis Angioid streaks of the fundus Ovarian carcinoma Intestinal polyp Thyroid adenoma Bifid ureter



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Clinodactyly, related diseases and genetic alterations

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