Melanoma, and Brachycephaly

Diseases related with Melanoma and Brachycephaly

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

Top matches:

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

Medium match ROBERTS SYNDROME

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

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

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

Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES 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

Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Top 5 symptoms//phenotypes associated to Melanoma and Brachycephaly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Neoplasm Global developmental delay Short stature Microcephaly Micrognathia Brachydactyly Downslanted palpebral fissures Posteriorly rotated ears Postnatal growth retardation Craniosynostosis Sparse hair Prominent nasal bridge Underdeveloped nasal alae Abnormality of the genital system Microphthalmia Nystagmus Wide nasal bridge Ptosis Short neck Cryptorchidism Syndactyly

Rare Symptoms - Less than 30% cases

Glaucoma Carcinoma Hypopigmented skin patches Prominent forehead Generalized hirsutism Paralysis Broad forehead Retrognathia Failure to thrive Proptosis Clinodactyly Cleft palate Thrombocytopenia Corneal opacity Malar flattening Broad nasal tip Craniofacial dysostosis High palate Flexion contracture Abnormality of skin pigmentation Pain Premature separation of centromeric heterochromatin Cleft upper lip Finger syndactyly Severe intrauterine growth retardation Tetraphocomelia Hydrocephalus Absent earlobe Aplasia of the ulna Wrist flexion contracture Phocomelia Long penis Subvalvular aortic stenosis Low hanging columella Upper limb undergrowth Basal cell carcinoma Midface capillary hemangioma Coloboma Short femoral neck Radial deviation of finger Clitoral hypertrophy Polycystic kidney dysplasia Opacification of the corneal stroma Wormian bones Knee flexion contracture Blue sclerae Short philtrum Absent radius Polyhydramnios Short nose Melanocytic nevus Abnormality of the kidney Nevus Hyperkeratosis Myocardial infarction Hypospadias Abnormality of cardiovascular system morphology Dilatation Subcutaneous nodule Intellectual disability, mild Intrauterine growth retardation Cafe-au-lait spot Delayed puberty Low-set ears Hearing impairment Muscular hypotonia Sensorineural hearing impairment Narrow palpebral fissure Microcornea Preaxial polydactyly Parietal foramina Pruritus Hirsutism Iris coloboma Papule Decreased skull ossification Depressed nasal tip Exostoses Intestinal malrotation Long philtrum Bilateral ptosis Polymicrogyria Broad thumb Turricephaly Multiple exostoses Aniridia Horizontal nystagmus Self-injurious behavior Nephroblastoma Abnormality of the skin Facial asymmetry Everted lower lip vermilion Epidermal nevus Congenital ptosis Sarcoma Deep philtrum Hypermelanotic macule Narrow nasal bridge Calvarial skull defect Periorbital fullness Rhabdomyosarcoma Thick hair Narrow nasal ridge Cutaneous melanoma Prominence of the premaxilla Neoplasm of the skin Congenital giant melanocytic nevus Open mouth Nevus spillus Ventriculomegaly Agenesis of corpus callosum Sparse eyebrow Sparse lateral eyebrow Round face Blepharophimosis Full cheeks Toe syndactyly Polydactyly Abnormal blistering of the skin Preaxial hand polydactyly Striae distensae Anemia Abnormal facial shape Strabismus Acrokeratosis Abnormality of the dentition Lamellar cataract Acantholysis Concave nasal ridge Poikiloderma Alopecia Osteosarcoma Alopecia of scalp Severe vision loss Squamous cell carcinoma Epicanthus Erythroderma Telangiectasia Sparse scalp hair Cutaneous photosensitivity Eczema Overgrowth Osteoporosis Hyperhidrosis Hypogonadism Osteopenia Erythema Skin rash Leukemia Hypertension Myopia Cutaneous syndactyly Anterior plagiocephaly Hypopigmentation of the skin Aplasia/Hypoplasia of the skin Cutaneous finger syndactyly Single transverse palmar crease Anal stenosis Foot polydactyly Arnold-Chiari type I malformation Downturned corners of mouth Chronic constipation Autistic behavior Optic nerve coloboma Telecanthus Medulloblastoma Cutaneous syndactyly of toes Behavioral abnormality High forehead Hypothyroidism Hemimegalencephaly Duplication of thumb phalanx Abnormality of thumb phalanx Feeding difficulties Visual impairment Autism Frontal bossing Edema Vomiting Micropenis Diarrhea Obesity Prominent nose Atrial septal defect Enlarged labia minora Shield chest Atrioventricular canal defect Freckling Multiple cafe-au-lait spots Neuroblastoma Curly hair Severe sensorineural hearing impairment Sprengel anomaly Premature skin wrinkling Right ventricular hypertrophy Wolff-Parkinson-White syndrome Redundant neck skin Aplasia/Hypoplasia of the abdominal wall musculature Abnormal mitral valve morphology Abnormal aortic valve morphology Abnormality of the ear Abnormal localization of kidney Abnormality of the pulmonary artery Excessive wrinkled skin Multiple lentigines Abnormal endocardium morphology Abnormal pulmonary valve morphology Hypoplasia of the ovary Numerous nevi Congestive heart failure Clinodactyly of the 5th finger Hypotrichosis Falls Chest pain Decreased fertility External genital hypoplasia Hemiparesis Joint hyperflexibility Generalized hypotonia Scoliosis Cognitive impairment Depressed nasal bridge Pectus excavatum Arrhythmia Delayed skeletal maturation Mandibular prognathia Neonatal hypotonia Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Pectus carinatum Pulmonic stenosis Thick vermilion border Bundle branch block Triangular face Webbed neck Specific learning disability Tetralogy of Fallot Mitral valve prolapse Abnormality of the face Left ventricular hypertrophy Scapular winging Spina bifida occulta Hyperextensible skin Myelodysplasia Abnormality of the voice Bilateral cryptorchidism Premature birth Bowing of the long bones Bilateral radial aplasia Shallow orbits Encephalocele Recurrent urinary tract infections Elbow flexion contracture Horseshoe kidney Cranial nerve paralysis Abnormality of the metacarpal bones Eosinophilia Bilateral talipes equinovarus Anonychia Cystic hygroma Oligodactyly Fibular hypoplasia Ankle contracture Bilateral cleft lip Convex nasal ridge Bilateral cleft lip and palate Eyelid coloboma Bicornuate uterus Biliary tract abnormality Hand oligodactyly Hydranencephaly Narrow naris Accessory spleen Bilateral renal agenesis Triangular mouth Talipes equinovalgus Frontal encephalocele Intermittent thrombocytopenia Oligohydramnios Renal agenesis Short thumb Capillary hemangioma Aortic valve stenosis Bilateral single transverse palmar creases Sandal gap Hemangioma Hypoplasia of the radius Radioulnar synostosis Proximal placement of thumb Absent thumb Aplasia/Hypoplasia of the thumb Hip contracture Underdeveloped supraorbital ridges Synostosis of carpal bones External ear malformation Fair hair Renal cyst Abnormality of the upper limb Patellar aplasia Humeroradial synostosis Complete duplication of thumb phalanx Facial hemangioma Progressive flexion contractures Mesomelic arm shortening Ventricular septal defect Talipes equinovarus Patent ductus arteriosus Skeletal dysplasia Cleft lip Talipes Cutaneous syndactyly between fingers 2 and 5


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