Epicanthus, and Hyperinsulinemia

Diseases related with Epicanthus and Hyperinsulinemia

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

Top matches:

Related symptoms:

  • Scoliosis
  • Ptosis
  • Epicanthus
  • Macrotia
  • Umbilical hernia


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION

Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHASHI-PENA SYNDROME; SHAPNS

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

Other less relevant matches:

Medium match PERLMAN SYNDROME

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

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

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

Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

Top 5 symptoms//phenotypes associated to Epicanthus and Hyperinsulinemia

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Hypoglycemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus Scoliosis Hypertelorism Feeding difficulties Generalized hypotonia Ptosis Seizures Dolichocephaly Short stature Respiratory distress Neoplasm Micrognathia Strabismus Retrognathia Abnormality of cardiovascular system morphology Upslanted palpebral fissure Ventriculomegaly Renal insufficiency Insulin resistance Specific learning disability Low-set ears Hepatomegaly Abnormality of the kidney Cleft palate High palate Failure to thrive Microcephaly Growth delay Oligohydramnios

Rare Symptoms - Less than 30% cases

Small for gestational age Smooth philtrum Arachnodactyly Primary amenorrhea Ataxia Obesity High, narrow palate Renal dysplasia Type II diabetes mellitus Abdominal distention Sepsis Cataract Renal agenesis Short palpebral fissure Weight loss Short nose Edema Prominent forehead Depressed nasal bridge Muscular hypotonia Finger syndactyly Abnormality of upper lip Leukemia Abnormality of the liver Thin upper lip vermilion Abnormality of the pinna Increased serum pyruvate Diabetes mellitus Hypopigmentation of the skin Acidosis Lactic acidosis Hypogonadism Increased serum lactate Almond-shaped palpebral fissure Abnormality of the cardiovascular system Precocious puberty Hypoplasia of penis Bicornuate uterus Bilateral single transverse palmar creases Myopia Respiratory failure Macrocephaly Proptosis Osteoporosis Posteriorly rotated ears Cerebral atrophy Kyphosis Brachycephaly Atrial septal defect Abnormality of the skeletal system Delayed speech and language development Low-set, posteriorly rotated ears Glucose intolerance Cognitive impairment Deep palmar crease Myeloid leukemia Large for gestational age Chromosome breakage Overgrowth Tracheoesophageal fistula Umbilical hernia Elevated hepatic transaminase Behavioral abnormality Reduced bone mineral density Poor suck Polycystic kidney dysplasia Hypospadias Vomiting Cafe-au-lait spot Febrile seizures Abnormality of the dentition Congestive heart failure Talipes equinovarus Intrauterine growth retardation Long face Fever Hypertension Bone marrow hypocellularity Type I diabetes mellitus Horseshoe kidney Telangiectasia Choanal atresia Anal atresia Hypergonadotropic hypogonadism Abnormality of the genital system Azoospermia Leukopenia Bruising susceptibility Astigmatism Spina bifida Vertigo Abnormality of skin pigmentation Tetralogy of Fallot Abnormal vertebral morphology Short thumb Neutropenia Lymphoma Aganglionic megacolon Pancytopenia Recurrent urinary tract infections Sloping forehead Facial asymmetry Fatigue Abnormality of the foot Frontal upsweep of hair Hypopnea Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Triangular mouth Disseminated intravascular coagulation Erysipelas Clitoral hypoplasia Acromicria Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Poor gross motor coordination Hearing impairment Toe syndactyly Severe short stature Hip dislocation Abnormal cardiac septum morphology Postnatal growth retardation Irritability Abnormality of the eye Hypertrophic cardiomyopathy Carcinoma Pes planus Hypothyroidism Clinodactyly of the 5th finger Anemia Abnormal heart morphology Patent ductus arteriosus Thrombocytopenia Headache Microphthalmia Hydrocephalus Frontal bossing Renal hypoplasia/aplasia Hyperreflexia Visual impairment Cranial nerve paralysis Abnormality of chromosome stability Hypopigmented skin patches Peripheral neuropathy Iris coloboma Brachydactyly Sensorineural hearing impairment Rotary nystagmus Organic aciduria Progressive microcephaly Wide intermamillary distance Babinski sign Encephalopathy Long philtrum Ketosis Congenital hepatic fibrosis Abnormality of coagulation Abnormality of mitochondrial metabolism Hyperammonemia Tachypnea Decreased liver function Metabolic acidosis Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Hand polydactyly Displacement of the external urethral meatus Deficient excision of UV-induced pyrimidine dimers in DNA Vaginal atresia Bilateral renal dysplasia Sirenomelia Urethral obstruction Potter facies Urogenital fistula Nonketotic hypoglycemia Bilateral renal hypoplasia Abnormal sacrum morphology Bilateral renal agenesis Abnormality of female internal genitalia Breech presentation Abnormality of the antitragus Non-midline cleft lip Unilateral renal agenesis Abnormality of the genitourinary system Abnormal intestine morphology Multicystic kidney dysplasia Depressed nasal ridge Renal hypoplasia Pulmonary hypoplasia Falls Talipes Proteinuria Neoplasm of head and neck Anemic pallor Abnormality of vision Aplasia/Hypoplasia of the radius Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Hearing abnormality External ear malformation Irregular hyperpigmentation Absent radius Abnormality of the thumb 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 Triphalangeal thumb Myelodysplasia Abnormality of the urinary system Abnormality of the testis Abnormality of femur morphology Prolonged G2 phase of cell cycle Low-grade fever Abnormal carotid artery morphology Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Meckel diverticulum Acute monocytic leukemia Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Central hypotonia Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Overweight Sleep disturbance Abnormality of lipid metabolism Diabetic ketoacidosis Agenesis of corpus callosum Inguinal hernia Hernia Anteverted nares Wide nasal bridge Onychauxis Postprandial hyperglycemia Muscle flaccidity Chorioretinal dystrophy Abnormal lip morphology High forehead Choroideremia Thin eyebrow Advanced eruption of teeth Long penis Fasting hypoglycemia Thick nail Abnormality of the optic nerve Long foot Ketoacidosis Polyhydramnios Hepatosplenomegaly Protuberant abdomen Open mouth Enlarged kidney Hamartoma Neurodevelopmental delay Global brain atrophy Nephroblastoma Growth abnormality Tented upper lip vermilion Hepatic fibrosis Tall stature Status epilepticus Deeply set eye Lumbar hyperlordosis Cardiomegaly Congenital diaphragmatic hernia Round face Macroglossia Ascites Flat face Hyperlordosis Muscular hypotonia of the trunk Hydronephrosis Insulin-resistant diabetes mellitus Ovarian neoplasm Polysplenia Deep-set nails Nevus Broad nasal tip Recurrent fractures Highly arched eyebrow Poor speech Autistic behavior Feeding difficulties in infancy Abnormality of the palpebral fissures Abnormality of the hairline Abdominal wall muscle weakness Hyperlipidemia Moderate global developmental delay Hemihypertrophy Hyperinsulinemic hypoglycemia Fragile nails Multiple renal cysts Neonatal hypoglycemia Plagiocephaly Vesicoureteral reflux Craniosynostosis Macrotia Accelerated skeletal maturation Nevus flammeus Flat occiput Microdontia Absent eyebrow Hyperglycemia Clitoral hypertrophy Lipodystrophy Acanthosis nigricans Narrow face Preauricular skin tag Hypertrichosis Epidermal acanthosis Microcornea Optic atrophy Hirsutism Thin vermilion border Dry skin Short philtrum Blepharophimosis Wide mouth Telecanthus Coarse facial features Dyspnea Mandibular prognathia Capillary hemangioma Renal neoplasm Iris hypopigmentation Amenorrhea Hypogonadotrophic hypogonadism Increased body weight Aortic valve stenosis Bradycardia Clumsiness Cutaneous photosensitivity Psychosis Decreased fetal movement Narrow forehead Hip dysplasia Narrow palpebral fissure Growth hormone deficiency Esotropia Gastrointestinal hemorrhage Full cheeks Tapered finger Short foot Small hand Downturned corners of mouth Short palm Polymicrogyria Spontaneous abortion Bicuspid aortic valve Genu valgum Decreased muscle mass Hypoventilation Hypopigmentation of hair Pulmonary embolism Striae distensae Impaired pain sensation Narrow nasal bridge Polyphagia External genital hypoplasia Truncal obesity Adrenal insufficiency Sleep apnea Skeletal muscle hypertrophy Albinism Inflammation of the large intestine Large hands Emotional lability Radial deviation of finger Failure to thrive in infancy Nasal speech Infantile muscular hypotonia Scrotal hypoplasia Infertility Delayed puberty Thick upper lip vermilion Fetal ascites Distal ileal atresia Ileal atresia Nephrogenic rest Renal hamartoma Hypoplasia of the abdominal wall musculature Naevus flammeus of the eyelid Abnormality of pancreas morphology Nephroblastomatosis Thymus hyperplasia Lumbar scoliosis Pain Long upper lip Pancreatic islet-cell hyperplasia Broad alveolar ridges Intestinal atresia Femoral hernia Interrupted aortic arch Visceromegaly Thickened helices Hypoxemia Volvulus Prominent xiphoid process Motor delay Carious teeth Osteopenia Hypermetropia Pruritus Stroke Attention deficit hyperactivity disorder Respiratory tract infection Apnea Abnormality of the nervous system Neonatal hypotonia Photophobia Narrow mouth Intellectual disability, severe Autism Micropenis Hyperactivity Recurrent respiratory infections Hyporeflexia Clinodactyly Dilatation Syndactyly Intellectual disability, mild Myopathy Fetal polyuria


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