Epicanthus, and Neoplasm of the skin

Diseases related with Epicanthus and Neoplasm of the skin

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


Top matches:

Low match LEGIUS SYNDROME


Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.

LEGIUS SYNDROME Is also known as nfls|neurofibromatosis type 1-like syndrome|nf1-like syndrome|neurofibromatosis 1-like syndrome

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Neoplasm
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGIUS SYNDROME

Low match AUTOSOMAL AGAMMAGLOBULINEMIA


Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

Low match NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS


NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

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Other less relevant matches:

Low match DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME


Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Low match MONOSOMY 9Q22.3


Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

Low match LATERAL MENINGOCELE SYNDROME


Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015).

LATERAL MENINGOCELE SYNDROME Is also known as lehman syndrome|lms

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about LATERAL MENINGOCELE SYNDROME

Low match FRONTONASAL DYSPLASIA 1; FND1


The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Low match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Top 5 symptoms//phenotypes associated to Epicanthus and Neoplasm of the skin

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Epicanthus and Neoplasm of the skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Ptosis Strabismus Macrocephaly Cryptorchidism Short stature Scoliosis Leukemia Abnormality of the skeletal system Pectus excavatum Cataract Hypotrichosis Depressed nasal bridge Telecanthus Neurofibromas Hearing impairment Micrognathia Low posterior hairline High palate Global developmental delay Brachydactyly Dilatation Arnold-Chiari malformation Basal cell carcinoma Wide nasal bridge Microcephaly Atrial septal defect Proptosis Lymphedema Webbed neck Motor delay Posteriorly rotated ears Kyphoscoliosis Abnormality of the ribs Pain Oral cleft Fever Abnormal facial shape Low-set, posteriorly rotated ears Sparse hair High, narrow palate Muscular hypotonia Feeding difficulties Hydrocephalus Thrombocytopenia Long philtrum Sensorineural hearing impairment Splenomegaly Recurrent infections Microphthalmia Brachycephaly Joint hyperflexibility Polydactyly Immunodeficiency

Rare Symptoms - Less than 30% cases


Abnormality of the vertebral column Accelerated skeletal maturation Leukocytosis Seizures Ovarian fibroma Cardiac fibroma Plantar pits Kyphosis Medulloblastoma Palmar pits Odontogenic keratocysts of the jaw Calcification of falx cerebri Umbilical hernia Bicuspid aortic valve Ventricular septal defect Carcinoma Coloboma Postaxial polydactyly Postural instability Fine hair Radial deviation of finger Short ribs EEG abnormality Hypogonadism Growth delay Cognitive impairment Myopia Cardiomyopathy Constipation Abdominal pain Abnormal cardiac septum morphology Cleft lip Alopecia Hernia Arnold-Chiari type I malformation Patent ductus arteriosus Conductive hearing impairment Hyperlordosis Joint hypermobility Iris coloboma Abnormal form of the vertebral bodies Vertebral fusion Meningocele Abnormal heart morphology Nystagmus Cleft palate Frontal bossing Anteverted nares Intellectual disability, mild Abnormality of cardiovascular system morphology Clinodactyly Myelodysplasia Generalized hypotonia Multiple cafe-au-lait spots Fatigue Syndactyly Specific learning disability Edema Respiratory insufficiency Hepatomegaly Multiple lipomas Anemia Abnormality of the sternum Pectus excavatum of inferior sternum Chronic otitis media Superior pectus carinatum Triangular face Failure to thrive Cubitus valgus Relative macrocephaly Axillary freckling Wide intermamillary distance Pulmonic stenosis Freckling Malar flattening Cellulitis Lisch nodules Verrucae Visual loss Cafe-au-lait spot Bruising susceptibility Scarring Bronchiectasis Diarrhea Pneumonia Malabsorption Decreased antibody level in blood Recurrent respiratory infections Hyperactivity Neutropenia Fragile nails Severe T-cell immunodeficiency Astrocytoma Ectopic calcification Spina bifida occulta Muscle stiffness Sparse facial hair Hemivertebrae Hypogonadotrophic hypogonadism Brain neoplasm Impaired lymphocyte transformation with phytohemagglutinin Absent pubertal growth spurt Spina bifida Bradycardia Hyperpigmentation of the skin Glomerulonephritis Inflammation of the large intestine Nephritis Abnormality of the neck Narrow nose Sprengel anomaly Down-sloping shoulders Thoracic scoliosis Skin tags Short 4th metacarpal Hemiparesis Abnormality of humoral immunity Colitis Melanocytic nevus Neoplasm of the endocrine system Agenesis of permanent teeth Broad face Long fingers Milia Biconvex vertebral bodies Disproportionate tall stature Ulcerative colitis Exotropia Distal arthrogryposis Cerebral calcification Shield chest Flaring of lower rib cage Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Susceptibility to chickenpox Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Restrictive cardiomyopathy Neurofibrosarcoma Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Gonadal dysgenesis Abnormality of blood and blood-forming tissues Neuroblastoma Male infertility Cystic hygroma Abnormality of color vision Reduced factor XII activity Panuveitis Hypotension Retrognathia Nevus Palmoplantar keratoderma Cleft upper lip Arachnodactyly Carious teeth Papule Facial palsy Proteinuria Non-Hodgkin lymphoma Coarse facial features Mandibular prognathia Juvenile myelomonocytic leukemia Glaucoma Abnormality of the dentition Dysarthria Spasticity Ataxia Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Loose anagen hair Metaphyseal dysostosis Hamartomatous polyposis Long fibula Gingival overgrowth B-cell lymphoma Reduced tendon reflexes Abnormal palate morphology Aplastic anemia Sparse eyelashes Hypocalcemia Abnormality of the pancreas Aplasia/Hypoplasia of the abdominal wall musculature Lymphopenia Sparse and thin eyebrow Aplasia/Hypoplasia affecting the eye Generalized joint laxity Metaphyseal chondrodysplasia Abnormality of retinal pigmentation Rhizomelia Cellular immunodeficiency Abnormality of epiphysis morphology Metaphyseal cupping Patent foramen ovale Aganglionic megacolon Bowing of the long bones Abnormality of chromosome stability Bronchiolitis Sacral dimple Disproportionate short-limb short stature Abnormal diaphysis morphology Femoral bowing Hypoplasia of the odontoid process Anal stenosis Hodgkin lymphoma Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Exocrine pancreatic insufficiency Thrombocytosis Tibial bowing Limited elbow extension Mesomelia Tracheal stenosis Short thorax Squamous cell carcinoma Cone-shaped epiphysis Metaphyseal widening Portal hypertension Genu varum Abnormality of pelvic girdle bone morphology Overweight Upper limb undergrowth Heart block Fair hair Diaphyseal thickening Abnormality of the metaphysis Supernumerary ribs Multiple impacted teeth Neonatal short-limb short stature Bridged sella turcica Abnormal bone ossification Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Orbital cyst Short distal phalanx of the thumb Severe hydrocephalus Ovarian carcinoma Hamartomatous stomach polyps Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Esophageal atresia Abnormally ossified vertebrae Hypoplastic anemia Abnormal T cell morphology Abnormality of the distal phalanx of finger Narrow vertebral interpedicular distance Cervical ribs Irregular ossification of hand bones Visual impairment Mucopolysacchariduria Small hand Normocytic anemia Depressed nasal ridge Blue sclerae Hypersplenism Lumbar hyperlordosis Convex nasal ridge Large face Spinal dysraphism Gastrointestinal hemorrhage Lymphoma Hypopigmentation of the skin Short palm Hypertension Micromelia Narrow chest Arthrogryposis multiplex congenita Pectus carinatum Joint laxity Congenital hypoplastic anemia Skeletal dysplasia Macrotia Prominent forehead Severe short stature Delayed skeletal maturation Abnormality of the coagulation cascade Long eyelashes Failure to thrive in infancy Abnormal neutrophil count Large for gestational age Nephroblastoma Trigonocephaly Tall stature Delayed eruption of teeth Retinopathy Narrow mouth Short nose Ventriculomegaly Macronodular cirrhosis Metopic synostosis Erysipelas Granulocytopenia Myeloproliferative disorder Abnormality of the optic nerve Hypercoagulability Acute leukemia Acute myeloid leukemia Myeloid leukemia Prolonged bleeding time Intracranial hemorrhage Rhabdomyosarcoma Thickened ears Bone marrow hypocellularity Increased bone mineral density Slender long bone Back pain Nasal speech Atresia of the external auditory canal Coarse hair Sleep apnea Osteolysis Microretrognathia Narrow palate Wormian bones Narrow face Peripheral neuropathy Abnormal vertebral morphology Dental crowding Abnormality of the skin Urinary incontinence Smooth philtrum Dolichocephaly Apnea Hydronephrosis Inguinal hernia Gait disturbance Leukopenia Pancytopenia Prominent metopic ridge Sinusitis External ear malformation Recurrent sinusitis Bronchitis Osteomyelitis Encephalitis Recurrent skin infections Conjunctivitis Recurrent bacterial infections Recurrent pneumonia Meningitis Chronic diarrhea B lymphocytopenia Recurrent otitis media Hepatitis Dehydration Sepsis Cough Skin rash Arthritis Neoplasm of the lung Abnormality of skin pigmentation Attention deficit hyperactivity disorder Agammaglobulinemia Crohn's disease Hypotelorism Weight loss Migraine Tapered finger Hematuria Hemolytic anemia Cirrhosis Lymphadenopathy Vertigo Nausea and vomiting Neurological speech impairment Pallor Respiratory failure Recurrent enteroviral infections Cerebellar atrophy Inguinal freckling Optic nerve glioma Prominent nasolabial fold Secundum atrial septal defect Broad neck Acute lymphoblastic leukemia Midface retrusion Delayed speech and language development Muscle weakness Thickened calvaria Syringomyelia Elevated alkaline phosphatase Parietal foramina Pectoral muscle hypoplasia/aplasia Frontal cutaneous lipoma Lipoma of corpus callosum Cranium bifidum occultum Morning glory anomaly Scleral staphyloma Widely-spaced maxillary central incisors Hypoplastic frontal sinuses Absent tibia Median cleft palate Broad columella Anterior basal encephalocele Bifid nose Agenesis of cerebellar vermis Broad philtrum Alopecia totalis Bifid nasal tip Conical tooth Preaxial foot polydactyly Widow's peak Calvarial skull defect Short columella Midline facial cleft Vomiting Lipoma Amenorrhea Pterygium Poor suck Azoospermia Plagiocephaly Amblyopia Left ventricular hypertrophy Clumsiness Primary amenorrhea Ventricular hypertrophy Coarctation of aorta Dental malocclusion Congestive heart failure Abnormal bleeding Abdominal distention Facial asymmetry Broad forehead Postnatal growth retardation Hypertrophic cardiomyopathy Gastroesophageal reflux Polyhydramnios Rod-cone dystrophy Headache Coronal craniosynostosis Median cleft lip Arachnoid cyst Abnormality of the middle ear ossicles Camptodactyly Intellectual disability, moderate Hypothyroidism Micropenis Upslanted palpebral fissure Agenesis of corpus callosum Talipes equinovarus Intrauterine growth retardation Short nasal bridge Basilar impression Dural ectasia Talipes Large sella turcica Sclerosis of skull base Tethered cord Biconcave vertebral bodies Platybasia Low back pain Generalized osteosclerosis Abnormality of the rib cage Craniofacial hyperostosis Osteolytic defects of the phalanges of the hand Craniosynostosis Wide nose Facial cleft Abnormality of the face Occipital encephalocele Partial agenesis of the corpus callosum Adrenal insufficiency Diabetes insipidus Anophthalmia Preaxial polydactyly Easy fatigability Scrotal hypoplasia Joint contracture of the hand Preauricular skin tag Heterotopia Hypoplasia of the maxilla Abnormality of the genital system Encephalocele Oligohydramnios Postaxial hand polydactyly Tetralogy of Fallot Decreased testicular size Dandy-Walker malformation Growth hormone deficiency Underdeveloped nasal alae Broad nasal tip Pulmonary lymphoma



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