Epicanthus, and Skin rash

Diseases related with Epicanthus and Skin rash

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

Top matches:

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

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

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Other less relevant matches:

Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS Is also known as glomerulonephritis with sparse hair and telangiectases|telangiectatic membranoproliferative glomerulonephritis

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Hypertension
  • Epicanthus
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS

Low match LIG4 SYNDROME

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 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

Top 5 symptoms//phenotypes associated to Epicanthus and Skin rash

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Epicanthus and Skin rash. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Thrombocytopenia Pancytopenia Intrauterine growth retardation Microcephaly Recurrent infections Immunodeficiency Hearing impairment Abnormal facial shape Abnormal heart morphology High palate Anemia Low-set ears Eczema Abnormal cardiac septum morphology Postnatal growth retardation Telecanthus Decreased antibody level in blood Lymphedema Leukemia Brachycephaly Edema Abnormality of cardiovascular system morphology Recurrent respiratory infections Behavioral abnormality Downslanted palpebral fissures Syndactyly Failure to thrive Malabsorption Depressed nasal bridge Micrognathia Short stature Thin upper lip vermilion Generalized hypotonia

Rare Symptoms - Less than 30% cases

Cognitive impairment Spasticity Cataract Pes planus Pyloric stenosis Broad nasal tip Hydrocephalus Smooth philtrum Hepatomegaly Prominent forehead Clinodactyly Long philtrum Hypoplasia of the corpus callosum Short nose Motor delay Frontal bossing Anteverted nares Lymphoma Narrow mouth Strabismus Scoliosis Abnormality of the skeletal system Hydronephrosis Low-set, posteriorly rotated ears Craniosynostosis Prominent nasal bridge Facial asymmetry Anal atresia Hypotelorism Optic atrophy Hypoplastic left heart Erysipelas Coarctation of aorta Delayed speech and language development Short thumb Clinodactyly of the 5th finger Attention deficit hyperactivity disorder Ventricular septal defect Trigonocephaly Osteopenia Telangiectasia Pulmonary lymphangiectasia Agenesis of corpus callosum Ptosis Intellectual disability, mild Webbed neck Dehydration Bone marrow hypocellularity Fever Bruising susceptibility Sensorineural hearing impairment Cryptorchidism Neurological speech impairment Camptodactyly Psychosis Sinusitis Neutropenia Small for gestational age Microtia Hypothyroidism Feeding difficulties in infancy Arthritis Feeding difficulties Muscular hypotonia Osteoporosis Acute leukemia Fatigue Leukocytosis Cellulitis Lymphadenopathy Verrucae Chronic otitis media Myelodysplasia Abnormal thrombocyte morphology Labial hypoplasia Coloboma Finger syndactyly Aplasia/Hypoplasia of the earlobes Schizophrenia Nuclear cataract Multicystic kidney dysplasia Hip dislocation Broad hallux phalanx Dolichocephaly Mitral stenosis Abnormal form of the vertebral bodies Ectopic anus Broad columella Hypoglycemia Intellectual disability, moderate Nasolacrimal duct obstruction Toe syndactyly Pachygyria Abnormality of the head Retrognathia High forehead Long hallux Amblyopia Urethral stenosis Short toe Leukodystrophy Aortic valve stenosis Hypogonadism Spina bifida Microdontia Narrow chest Infantile muscular hypotonia Tachypnea Slender finger Partial agenesis of the corpus callosum Growth hormone deficiency Premature birth Intestinal malrotation Abnormal palate morphology Atrioventricular canal defect Natal tooth Aplasia/Hypoplasia of the eyebrow Flat occiput Hammertoe Heart murmur Chorioretinal coloboma Ectropion Hand polydactyly Postural instability Transposition of the great arteries Talipes Missing ribs Duodenal atresia Eyelid coloboma Chronic constipation Tachycardia Retinal dysplasia Holoprosencephaly Diastasis recti Otitis media Microcornea Double outlet right ventricle Azoospermia Abnormal eyelash morphology Bipolar affective disorder Iris coloboma Single transverse palmar crease Wheezing Horseshoe kidney Alopecia U-Shaped upper lip vermilion Psoriasiform dermatitis Neoplasm Large beaked nose Bird-like facies Abnormality of bone marrow cell morphology Abnormality of chromosome stability Severe combined immunodeficiency Biparietal narrowing Telangiectasia of the skin Combined immunodeficiency Low anterior hairline Cerebellar atrophy Cutaneous photosensitivity Type II diabetes mellitus Hypoplasia of penis Thin vermilion border Erythema Abnormality of the nervous system Upslanted palpebral fissure Telangiectasia of extensor surfaces Facial telangiectasia in butterfly midface distribution Respiratory insufficiency Splenomegaly Choroid plexus calcification Leukopenia Macronodular cirrhosis Granulocytopenia Myeloproliferative disorder Abnormality of the optic nerve Hypercoagulability Acute myeloid leukemia Myeloid leukemia Prolonged bleeding time Intracranial hemorrhage Migraine Visual loss Tapered finger Hematuria Hemolytic anemia Cirrhosis Vertigo Nausea and vomiting Scarring Pallor Weight loss Respiratory failure Epidermal hyperkeratosis Oval face Central hypothyroidism Megakaryocyte dysplasia Pericardial lymphangiectasia Irregular dentition Intestinal lymphangiectasia Hypoproteinemia Lymphopenia Flat face Blepharophimosis Intellectual disability, severe Abnormality of the curvature of the vertebral column Congenital thrombocytopenia Renal insufficiency Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia Hypertension Dilatation Membranoproliferative glomerulonephritis Absent eyebrow Arteriosclerosis Nonimmune hydrops fetalis Hydrocele testis Narrow nose Absent eyelashes Palpebral edema Freckling Long nose Reduced subcutaneous adipose tissue Glomerulonephritis Hyperkeratosis Chronic kidney disease Sparse eyelashes Sparse and thin eyebrow Hydrops fetalis Thick vermilion border Stage 5 chronic kidney disease Hypotrichosis Sparse hair Proteinuria Mandibular prognathia Constipation Bilateral conductive hearing impairment Inguinal hernia Severe intrauterine growth retardation Vomiting Tremor Hyperreflexia Decreased head circumference Nevus flammeus of the forehead Malar rash Macrodontia Deep palmar crease Sacral dimple Headache Short chin Hemivertebrae Pointed chin Decreased body weight Broad-based gait Narrow forehead Triangular face Small hand High, narrow palate Hypertonia Depressivity Abnormality of the pinna Delayed myelination Blue irides Self-mutilation Poor coordination Iron deficiency anemia Scleroderma Malnutrition Obsessive-compulsive behavior Spontaneous abortion Cerebral calcification Asthma Hyperactivity Nausea Dry skin Abnormality of the cerebral white matter Pruritus Abnormality of the liver Irritability Aggressive behavior Anxiety Autism Synophrys Posteriorly rotated ears Generalized hypopigmentation Juvenile rheumatoid arthritis Decreased adenosylcobalamin Megaloblastic bone marrow Decreased methylcobalamin Hyperhomocystinemia Glossitis Methylmalonic acidemia Homocystinuria Methylmalonic aciduria Stomatitis Megaloblastic anemia Cystathioninuria Macrocytic anemia Rheumatoid arthritis Incoordination Abnormality of the skin Aciduria Lethargy Developmental regression Acidosis Ataxia Decreased methionine synthase activity Cystathioninemia Recurrent enteroviral infections Conjunctivitis Crohn's disease B lymphocytopenia Agammaglobulinemia External ear malformation Recurrent sinusitis Bronchitis Osteomyelitis Encephalitis Recurrent skin infections Recurrent bacterial infections Diarrhea Recurrent pneumonia Meningitis Bronchiectasis Chronic diarrhea Recurrent otitis media Hepatitis Sepsis Cough Pneumonia Fair hair Abnormal posturing Patent ductus arteriosus Limited elbow movement Bilateral radial aplasia Flat forehead Urogenital fistula Abnormality of the carpal bones Metopic synostosis Brachyturricephaly Ulnar bowing Aplasia/Hypoplasia of the patella Lambdoidal craniosynostosis Hand oligodactyly Bicoronal synostosis Patellar hypoplasia Anterior plagiocephaly Oxycephaly Abnormal localization of kidney Sagittal craniosynostosis Rib fusion Poikiloderma Rectovaginal fistula Osteosarcoma Aplasia of metacarpal bones Perineal fistula Chromosome breakage Ventriculomegaly Pectus excavatum Hypospadias Hernia Cerebral atrophy Microphthalmia Congestive heart failure Abnormality of the dentition Atrial septal defect Short neck Talipes equinovarus Limited shoulder movement Macrocephaly Brachydactyly Flexion contracture Unilateral radial aplasia Aphalangy of the hands Anomalous splenoportal venous system Midface capillary hemangioma Carpal bone aplasia Persistent cloaca Choanal stenosis Coronal craniosynostosis Mood changes Cleft palate Prominent nose Vesicoureteral reflux Bifid uvula Polymicrogyria Broad forehead Abnormality of the kidney Conductive hearing impairment Proptosis Myopia Nystagmus Bowing of the long bones Maternal hyperphenylalaninemia Reduced phenylalanine hydroxylase activity Phenylpyruvic acidemia Increased level of hippuric acid in urine Microphakia Prenatal maternal abnormality Hyperphenylalaninemia Body odor Folate deficiency Underdeveloped nasal alae Renal dysplasia Shallow orbits Narrow nasal bridge Carpal synostosis Abnormality of the ureter Aplasia/Hypoplasia of the radius Fibular hypoplasia Absent radius Oligodactyly Short humerus Aplasia/Hypoplasia of the thumb Anteriorly placed anus Absent thumb Large fontanelles Hallux valgus Hypoplasia of the ulna Tracheoesophageal fistula Failure to thrive in infancy Hypoplasia of the radius Abnormality of the metacarpal bones Spina bifida occulta Narrow face Abnormal vertebral morphology Abnormal neutrophil count


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