Epicanthus, and Insulin resistance

Diseases related with Epicanthus and Insulin resistance

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

Top matches:

DIDOD is a disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Other less relevant matches:

Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Related symptoms:

  • Abnormal facial shape
  • Cognitive impairment
  • Feeding difficulties
  • Epicanthus
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5

Related symptoms:

  • Scoliosis
  • Ptosis
  • Epicanthus
  • Macrotia
  • Umbilical hernia


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION

Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY

Top 5 symptoms//phenotypes associated to Epicanthus and Insulin resistance

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Hypoglycemia Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Epicanthus and Insulin resistance. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Upslanted palpebral fissure

Uncommon Symptoms - Between 30% and 50% cases

Short stature Abnormal facial shape Respiratory distress Growth delay Microcephaly Strabismus Generalized hypotonia Motor delay Micrognathia Cryptorchidism Intrauterine growth retardation Seizures Diabetes mellitus Ptosis Muscular hypotonia Myopia Dolichocephaly Scoliosis Hypertelorism Depressed nasal bridge Failure to thrive Feeding difficulties Hepatomegaly Brachycephaly Neonatal hypotonia Hyperlordosis Osteopenia Pes planus Arachnodactyly Acidosis Poor suck Osteoporosis Prominent forehead Microcornea Sepsis Kyphosis Congestive heart failure Hyperinsulinemia Precocious puberty Hyperglycemia Ventriculomegaly Ketoacidosis Weight loss Neoplasm Blepharophimosis Macrotia Hypermetropia Thin vermilion border Short nose Thin upper lip vermilion Oligohydramnios Obesity

Rare Symptoms - Less than 30% cases

Hypothyroidism Abnormality of the nervous system Myopathy Abnormality of the liver Chromosome breakage Edema Gait disturbance Narrow mouth Talipes equinovarus Abnormality of the kidney Clinodactyly of the 5th finger Visual impairment Hearing impairment Low-set ears Intellectual disability, severe Atrial septal defect Onychauxis Postprandial hyperglycemia Dilatation Irritability Abnormality of the pinna Renal insufficiency Anemia Almond-shaped palpebral fissure Gastrointestinal hemorrhage Esotropia Overgrowth Myeloid leukemia Pain Bruising susceptibility Brachydactyly Decreased fetal movement Blue sclerae Glucose intolerance Thin skin Abnormal heart morphology Dental crowding Astigmatism Carious teeth Spina bifida Increased body weight Postnatal growth retardation Severe short stature Single transverse palmar crease Elevated hepatic transaminase Peripheral neuropathy Lactic acidosis Thick vermilion border Coarse facial features Cognitive impairment Dehydration Mandibular prognathia Abnormality of the dentition Fever Vomiting Polycystic ovaries Hypogonadism Cafe-au-lait spot Type I diabetes mellitus Umbilical hernia Tapered finger Hypopigmentation of the skin Small for gestational age Joint hypermobility Overweight Short philtrum Attention deficit hyperactivity disorder Leukemia High forehead Hyperactivity Clinodactyly Syndactyly Long philtrum Behavioral abnormality Anteverted nares Delayed speech and language development Telecanthus Respiratory failure Smooth philtrum Hypertrichosis Hip dislocation Increased serum lactate Advanced eruption of teeth Long penis Thick nail Genu valgum Insulin-resistant diabetes mellitus Neutropenia Dry skin Clitoral hypertrophy Narrow palm Acanthosis nigricans Narrow face Preauricular skin tag Increased serum pyruvate Short palpebral fissure Abdominal distention Hirsutism Long face Epidermal acanthosis Microdontia Specific learning disability Cleft palate Fatigue Disseminated intravascular coagulation Erysipelas Acromicria Frontal upsweep of hair Clitoral hypoplasia Hypertrophic cardiomyopathy Cataract Ataxia Headache Triangular mouth Carcinoma Temperature instability Central adrenal insufficiency Hypospadias Hypoplastic labia minora Poor gross motor coordination Frontal bossing Psychotic episodes Microphthalmia Hypopnea Hydrocephalus Hyperreflexia Proptosis Abnormality of cardiovascular system morphology Thrombocytopenia Patent ductus arteriosus Abnormality of the skeletal system Emotional lability Anteverted ears Cutaneous photosensitivity Infantile muscular hypotonia Scrotal hypoplasia Sleep apnea Bicuspid aortic valve Narrow palpebral fissure Spontaneous abortion Hypogonadotrophic hypogonadism Aortic valve stenosis Bradycardia Clumsiness Primary amenorrhea Psychosis Failure to thrive in infancy Type II diabetes mellitus Narrow forehead Abnormality of the cardiovascular system Amenorrhea Hip dysplasia Febrile seizures Growth hormone deficiency Full cheeks Sleep disturbance Short foot Small hand Nasal speech Radial deviation of finger Poor fine motor coordination Hypoventilation Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypopigmentation of hair Large hands Pulmonary embolism Striae distensae Impaired pain sensation Narrow nasal bridge Polyphagia External genital hypoplasia Truncal obesity Decreased muscle mass Adrenal insufficiency Skeletal muscle hypertrophy Albinism Inflammation of the large intestine Abnormality of the eye Hearing abnormality Abnormal cardiac septum morphology Clubbing of toes Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Partial duplication of thumb phalanx Pyridoxine-responsive sideroblastic anemia Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Aplasia/Hypoplasia of fingers Abnormality of the preputium Abnormal aortic valve morphology Hyperinsulinemic hypoglycemia Organic aciduria Progressive microcephaly Wide intermamillary distance Babinski sign Encephalopathy Abnormality of the palpebral fissures Abnormality of the hairline Deep-set nails Abdominal wall muscle weakness Moderate global developmental delay Deep palmar crease Hemihypertrophy Fragile nails Metabolic acidosis Multiple renal cysts Neonatal hypoglycemia Large for gestational age Plagiocephaly Vesicoureteral reflux Craniosynostosis Ketosis Abnormality of coagulation Abnormality of mitochondrial metabolism Hyperammonemia Tachypnea Decreased liver function Abnormal renal morphology Abnormality of the hypothalamus-pituitary axis Finger syndactyly Aganglionic megacolon Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Leukopenia Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Abnormal vertebral morphology Short thumb Telangiectasia Recurrent urinary tract infections Abnormality of the genital system Abnormality of vision Choanal atresia Pancytopenia Sloping forehead Tetralogy of Fallot Renal agenesis Lymphoma Abnormality of skin pigmentation Vertigo Anal atresia Facial asymmetry Abnormality of the foot Toe syndactyly Reduced bone mineral density Abnormality of the urinary system Acute monocytic leukemia External ear malformation Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Short palm Irregular hyperpigmentation Myelodysplasia Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Multiple cafe-au-lait spots Absent thumb Hydroureter Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Tracheoesophageal fistula Triphalangeal thumb Downturned corners of mouth Absent speech Polymicrogyria Intracranial hemorrhage Atypical scarring of skin Soft skin Aortic root aneurysm Keratoconus Slender finger Abnormality of the hip bone Atrophic scars Disproportionate tall stature Heart murmur Aortic aneurysm Hyperextensible skin Generalized joint laxity Corneal dystrophy Aortic regurgitation Torticollis Spina bifida occulta Joint dislocation Hyperbilirubinemia Recurrent pneumonia Joint contracture of the hand Tall stature High myopia Mitral valve prolapse Aortic dissection Bladder diverticulum Generalized muscle weakness Spontaneous rupture of the globe Hepatic failure Platyspondyly Joint stiffness Hepatosplenomegaly Jaundice Delayed skeletal maturation Hypertonia Diarrhea Spasticity Progressive congenital scoliosis Molluscoid pseudotumors Subcutaneous hemorrhage Arterial rupture Decreased pulmonary function Moderate myopia Wrist drop Premature rupture of membranes Palmoplantar cutis laxa Arterial dissection Dural ectasia Keloids Thoracic kyphoscoliosis Lens luxation Abnormal bleeding Polyneuropathy Coma Long toe Ovarian neoplasm Flat occiput Absent eyebrow Lipodystrophy High, narrow palate Wide mouth Retrognathia Dyspnea Optic atrophy Horizontal eyebrow Cavum septum pellucidum Long foot Impulsivity Easy fatigability Delayed gross motor development Stereotypy Broad-based gait Round face Thick eyebrow Synophrys Aggressive behavior Anxiety Deeply set eye Protuberant abdomen Abnormality of the optic nerve Retinal detachment Hernia Unsteady gait Talipes Joint hyperflexibility Pectus carinatum Retinopathy Joint laxity Kyphoscoliosis Glaucoma Inguinal hernia Pectus excavatum Abnormality of metabolism/homeostasis Fasting hypoglycemia Blindness Respiratory insufficiency Flexion contracture Muscle weakness Abnormality of upper lip Muscle flaccidity Chorioretinal dystrophy Diabetic ketoacidosis Abnormal lip morphology Choroideremia Thin eyebrow Nephropathy Recurrent fractures Infertility Generalized hirsutism Growth hormone excess Prematurely aged appearance Abnormality of the thyroid gland Metatarsus adductus Neonatal respiratory distress Sparse eyebrow Coarse hair Abnormality of the outer ear Nephrocalcinosis Narrow palate Sparse and thin eyebrow Progeroid facial appearance Wide anterior fontanel Fine hair Coarctation of aorta Optic disc pallor Intestinal malrotation Postaxial polydactyly Iris coloboma Coloboma Sparse hair Feeding difficulties in infancy Muscular hypotonia of the trunk Bell-shaped thorax Ovoid vertebral bodies Conductive hearing impairment Intellectual disability, mild Delayed puberty Pruritus Stroke Respiratory tract infection Apnea Photophobia Autism Micropenis Recurrent respiratory infections Hyporeflexia Hypertension Furrowed tongue Long palm Laryngeal stridor Female pseudohermaphroditism Macrodontia Broad eyebrow Abnormality of the abdominal wall Abnormality of the upper urinary tract Diastema Hypocholesterolemia Ovarian cyst Bilateral conductive hearing impairment Proteinuria Gastroesophageal reflux Triangular face Glycosuria Thin bony cortex Multiple epiphyseal dysplasia Acute hepatic failure Barrel-shaped chest Renal tubular dysfunction Cone-shaped epiphyses of the phalanges of the hand Irregular vertebral endplates Exocrine pancreatic insufficiency Hypoplasia of the odontoid process Hyperuricemia Steatorrhea Enlarged thorax Neurodevelopmental delay Short thorax Abnormality of neuronal migration Spondyloepiphyseal dysplasia Preauricular pit Epiphyseal dysplasia Wormian bones Coxa valga Abnormality of epiphysis morphology Abnormality of the metaphysis Hepatitis Small epiphyses Carpal bone hypoplasia Hyperkeratosis Reduced pancreatic beta cells Polydactyly Posteriorly rotated ears Constipation Recurrent infections Hypoplasia of the corpus callosum Ventricular septal defect Ivory epiphyses of the toes Irregular tarsal ossification Intracerebral periventricular calcifications Ivory epiphyses of the phalanges of the hand Abnormality of pancreas morphology Irregular carpal bones Thoracolumbar kyphosis Bilateral coxa valga Transient neonatal diabetes mellitus Shortening of all middle phalanges of the fingers Chronic hepatic failure Atlantoaxial dislocation Decreased hip abduction Hip subluxation Pancreatic hypoplasia Central hypothyroidism Flattened epiphysis Narrow iliac wings Rotary nystagmus


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