Melanoma, and Narrow forehead

Diseases related with Melanoma and Narrow forehead

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

Top matches:

Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997).There are several X-linked loci that affect neuronal migration, including the Aicardi locus (OMIM ).

LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis|lissencephaly and agenesis of corpus callosum

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY, X-LINKED, 1; LISX1

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Other less relevant 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

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

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

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

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

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

Top 5 symptoms//phenotypes associated to Melanoma and Narrow forehead

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Prominent forehead Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Ventriculomegaly Hypertelorism Failure to thrive Long philtrum Generalized hypotonia Hearing impairment Scoliosis Feeding difficulties Abnormality of cardiovascular system morphology Hydrocephalus Growth delay Short neck Frontal bossing Broad nasal tip Clinodactyly of the 5th finger Inguinal hernia Hernia Sparse hair Narrow palate Cataract Long face Wide intermamillary distance Polyhydramnios Ventricular septal defect High palate Low-set ears Micrognathia Atrial septal defect Intellectual disability, severe Posteriorly rotated ears Gastroesophageal reflux Intestinal malrotation Open mouth Nevus Full cheeks Abnormality of skin pigmentation Nephroblastoma High, narrow palate Abnormality of the dentition Anteverted nares Thick vermilion border Macrocephaly Depressed nasal bridge Muscular hypotonia Pain Ptosis Abnormal facial shape Microcephaly

Rare Symptoms - Less than 30% cases

Severe global developmental delay Everted lower lip vermilion Bulbous nose Postnatal growth retardation Camptodactyly Muscular hypotonia of the trunk Broad forehead Short nose Intellectual disability, profound Heterotopia Pruritus Coarctation of aorta Apnea Retrognathia Abnormality of the kidney High forehead Subvalvular aortic stenosis Abnormal heart morphology Tracheomalacia Supernumerary nipple Obsessive-compulsive behavior Cleft upper lip Biparietal narrowing Pyloric stenosis Cleft lip Abnormality of the skeletal system Webbed neck Underdeveloped supraorbital ridges Optic atrophy Hydronephrosis Myopia Wide nasal bridge Hepatomegaly Ataxia Flexion contracture Nystagmus Cryptorchidism Cleft palate Strabismus Syndactyly Dental malocclusion Dilatation Dolichocephaly Thick hair Dysarthria Cerebral cortical atrophy Proptosis Intellectual disability, mild Melanocytic nevus Deep philtrum Spontaneous abortion Abnormality of the optic nerve Agenesis of corpus callosum Pectus excavatum Talipes equinovarus Coarse facial features Delayed speech and language development Anal stenosis Hypoplasia of the corpus callosum Brachycephaly Decreased body weight Autism Thin vermilion border Deep palmar crease Edema Sleep disturbance Leukemia Scarring Umbilical hernia Vomiting Erythema Feeding difficulties in infancy Aggressive behavior Conductive hearing impairment Short foot Upslanted palpebral fissure Osteopenia Cognitive impairment Multicystic kidney dysplasia Alopecia Aortic valve stenosis Short toe Behavioral abnormality Vesicoureteral reflux Malar flattening Sleep apnea Hyperhidrosis Hemangioma Alopecia of scalp Sparse scalp hair Congenital diaphragmatic hernia Eczema Hyperkeratosis Downslanted palpebral fissures Epicanthus Round face Submucous cleft hard palate Retinal dystrophy Progressive visual loss Genu valgum Bruising susceptibility Abnormality of the cerebral white matter Premature birth Pulmonic stenosis Astigmatism Hypotrichosis Abnormal bleeding Hypermetropia Abdominal distention Nail dystrophy Growth hormone deficiency Palmoplantar keratoderma Hepatic steatosis Dry skin Ichthyosis Joint hypermobility Falls Peripheral axonal neuropathy Hypertonia Neurological speech impairment Hypogonadism Striae distensae Basal cell carcinoma Squamous cell carcinoma Erythroderma Telangiectasia Cutaneous photosensitivity Overgrowth Abnormal blistering of the skin Hypopigmentation of the skin Skin rash Carcinoma Osteoporosis Osteosarcoma Diarrhea Visual impairment Paranasal sinus hypoplasia Straight clavicles Metaphyseal striations Osteopathia striata Facial hyperostosis High iliac wings Unilateral facial palsy Laryngeal web Craniofacial osteosclerosis Large iliac wings Severe vision loss Poikiloderma Pectus carinatum Encephalopathy Abnormal cardiac septum morphology Respiratory tract infection Irritability Abnormality of the eye Low-set, posteriorly rotated ears Telecanthus Hypertrophic cardiomyopathy EEG abnormality Macrotia Constipation Delayed skeletal maturation Depressivity Concave nasal ridge Thrombocytopenia Cerebral atrophy Kyphosis Splenomegaly Congestive heart failure Cardiomegaly Blindness Cardiomyopathy Dysphagia Acrokeratosis Lamellar cataract Acantholysis Abnormality of the cardiovascular system Cubitus valgus Low posterior hairline Abnormal myocardium morphology Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Thickened helices Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Abnormality of refraction Delayed CNS myelination Multiple lentigines Abnormality of the testis Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Woolly hair Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Cavernous hemangioma Sparse or absent eyelashes Arnold-Chiari type I malformation Hyperkeratosis pilaris Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Tongue thrusting Increased nuchal translucency Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Enlarged kidney Abnormal eyelash morphology Fine hair Cutis laxa Hyperextensible skin Poor suck Relative macrocephaly Abnormality of vision Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Oculomotor apraxia Brittle hair Sparse eyelashes Abnormality of the nail Aspiration Cerebral visual impairment Hyperpigmentation of the skin Lymphedema Cafe-au-lait spot Thickened skin Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Redundant skin Failure to thrive in infancy Atopic dermatitis Aplasia/Hypoplasia of the eyebrow Poor appetite Generalized hyperpigmentation Curly hair Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Neurofibromas Neurodevelopmental delay Hydroureter Bilateral ptosis Malnutrition Open bite Large for gestational age Absent eyebrow Heart murmur Chronic otitis media Alobar holoprosencephaly Ectropion Pleural effusion Scaling skin Sparse eyebrow Laryngotracheomalacia Paralysis Broad clavicles Sarcoma Prominence of the premaxilla Epidermal nevus Cutaneous melanoma Narrow nasal ridge Rhabdomyosarcoma Periorbital fullness Calvarial skull defect Narrow nasal bridge Hypermelanotic macule Hypopigmented skin patches Nevus spillus Neoplasm of the skin Generalized hirsutism Subcutaneous nodule Papule Self-biting Pain insensitivity Abnormal aortic morphology Broad columella Broad face Congenital giant melanocytic nevus Intrauterine growth retardation Low hanging columella Dandy-Walker malformation CNS hypomyelination Sacral dimple Joint dislocation Elbow flexion contracture Low anterior hairline Bradycardia Hypertrichosis Interphalangeal joint contracture of finger High myopia Convex nasal ridge Recurrent infections Limitation of joint mobility Tapered finger Hirsutism Oral cleft Talipes Synophrys Narrow chest Platyspondyly Camptodactyly of finger Retinopathy Renal neoplasm Overweight Elbow dislocation Schizophrenia Pes planus Hyperactivity Hyporeflexia Arrhythmia Obesity Midface retrusion Brachydactyly Sensorineural hearing impairment Bipolar affective disorder Subependymal nodules Deeply set eye Type I lissencephaly Agyria Microphallus Abnormality of neuronal migration Lissencephaly Pachygyria Sloping forehead Micropenis Motor delay Spasticity Thin upper lip vermilion Autistic behavior Mild short stature Broad-based gait Self-injurious behavior Short metatarsal Laryngomalacia Narrow palpebral fissure Short chin Bilateral single transverse palmar creases Sparse and thin eyebrow Short phalanx of finger Stereotypy Underdeveloped nasal alae Blepharophimosis Short metacarpal Highly arched eyebrow Small hand Downturned corners of mouth Wide nose Short palm Joint hyperflexibility Toe syndactyly Finger syndactyly Attention deficit hyperactivity disorder Trigonocephaly Hypoplasia of the brainstem Rough bone trabeculation Mutism Dysphasia Aphasia Delayed cranial suture closure Hyperostosis Flat occiput Overfolded helix Metaphyseal widening Increased susceptibility to fractures Nasal speech Cutaneous syndactyly Visual field defect Holoprosencephaly Spina bifida occulta Osteolysis Microretrognathia Spina bifida Increased bone mineral density Joint contracture of the hand Abnormal vertebral morphology Dental crowding Hypoplastic left heart Mixed hearing impairment Aganglionic megacolon Large forehead Flexion contracture of toe Asymmetry of the thorax Sclerosis of skull base Thoracolumbar kyphosis Otosclerosis Fibular aplasia Delayed closure of the anterior fontanelle White forelock Facial paralysis Broad ribs Partial agenesis of the corpus callosum Thoracic dysplasia Ectopic anus Echolalia Misalignment of teeth Osteopetrosis Pierre-Robin sequence Ankylosis Fibular hypoplasia Natal tooth Thickened calvaria Large fontanelles Omphalocele Overlapping toe Abnormal anterior chamber morphology Facial capillary hemangioma Nevus flammeus of the forehead Mesomelic/rhizomelic limb shortening Facial hemangioma Ulnar deviation of the wrist Accessory oral frenulum Atrophy of the spinal cord Deep plantar creases Broad alveolar ridges Abnormality of the pancreas Delayed peripheral myelination Capillary hemangioma Thoracolumbar scoliosis Severe failure to thrive Severe intrauterine growth retardation Nevus flammeus Prominent metopic ridge Ulnar deviation of finger Dislocated radial head Broad palm Short thorax Hyperechogenic pancreas Myopathy Abnormality of the metaphysis Arachnodactyly Thick lower lip vermilion Lumbar hyperlordosis Oligohydramnios Cerebral calcification Specific learning disability Abnormality of the skin Bifid uvula Delayed eruption of teeth Flat face Anal atresia Headache Ophthalmoplegia Microtia Craniosynostosis Hyperlordosis Facial palsy Skeletal dysplasia Hypothyroidism Severe short stature Patent ductus arteriosus Clinodactyly Oral aversion


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