Epicanthus, and Hypoglycemia

Diseases related with Epicanthus and Hypoglycemia

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

Top matches:

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

Other less relevant matches:

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

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

Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease|hcs|homozygous 2p16 deletion syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTONIA-CYSTINURIA SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

ISOLATED COMPLEX III DEFICIENCY Is also known as isolated coq-cytochrome c reductase deficiency|isolated ubiquinone-cytochrome c reductase deficiency|isolated mitochondrial respiratory chain complex iii deficiency|isolated coenzyme q-cytochrome c reductase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED COMPLEX III DEFICIENCY

Top 5 symptoms//phenotypes associated to Epicanthus and Hypoglycemia

Symptoms // Phenotype % cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Retrognathia Lactic acidosis Acidosis Feeding difficulties Ptosis Nystagmus Cryptorchidism Hypertelorism Neonatal hypoglycemia Small for gestational age Macrotia Respiratory distress Short stature Elevated hepatic transaminase Growth delay Failure to thrive Increased serum lactate Feeding difficulties in infancy

Rare Symptoms - Less than 30% cases

Brachycephaly Abnormality of the kidney Spasticity Micrognathia Cleft palate Long face Hyperinsulinemia Ketoacidosis Cognitive impairment Abnormality of the dentition Hyperglycemia Renal hypoplasia Hypertrichosis Cardiomegaly Full cheeks Delayed myelination Abdominal distention Proptosis Posteriorly rotated ears Encephalopathy Mandibular prognathia Cerebral atrophy Coarse facial features Low-set ears Sensorineural hearing impairment Umbilical hernia Large for gestational age Muscle weakness Overgrowth Hepatomegaly Muscular hypotonia Dolichocephaly Scoliosis Hemihypertrophy Increased serum pyruvate Abnormality of mitochondrial metabolism Intellectual disability, severe Decreased liver function Metabolic acidosis Vomiting Severe muscular hypotonia Nevus flammeus Peripheral neuropathy Hearing impairment Deep palmar crease Gait ataxia Hypoplasia of the corpus callosum Hypocalcemia Down-sloping shoulders Cystinuria Maternal diabetes Prominent superficial veins Increased body weight Hypergonadotropic hypogonadism Recurrent hypoglycemia Long eyelashes High pitched voice Tremor Kinetic tremor Increased vertebral height Nephrolithiasis Ventricular septal defect Downslanted palpebral fissures Intrauterine growth retardation Splenomegaly Decreased fetal movement Dysarthria Severe failure to thrive Polyuria Brisk reflexes Polyphagia Narrow mouth Hypothyroidism Tented upper lip vermilion Kyphoscoliosis Hyperlordosis Sparse hair Delayed puberty Dysmetria Downturned corners of mouth Diabetes mellitus Round face Nasal speech Hypotelorism Delayed skeletal maturation Pectus excavatum Fine hair Abnormal vertebral morphology Truncal ataxia Type I diabetes mellitus Oligodontia Polydipsia Central hypotonia Hypoplasia of the brainstem Blue sclerae Abnormal eyebrow morphology Malar flattening Pigmentary retinopathy Spastic tetraparesis Exercise intolerance Aminoaciduria Hallucinations Cholestasis Tetraparesis Coma Brittle hair Sensory neuropathy Hepatic failure Congenital cataract Retinopathy Developmental regression Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Ragged-red muscle fibers Nephritis Dementia Hyperechogenic kidneys Decreased mitochondrial complex III activity in liver tissue Persistent lactic acidosis Mitochondrial encephalopathy Histiocytoid cardiomyopathy Food intolerance Abnormality of the abdominal wall Microvesicular hepatic steatosis Proximal tubulopathy Emotional lability Cholangitis Hyperphosphaturia Tubulointerstitial nephritis Myoglobinuria Rhabdomyolysis Glycosuria Abnormality of the coagulation cascade EEG abnormality Rod-cone dystrophy Patent ductus arteriosus Prominent nose Capillary hemangioma Enlarged kidney Abnormality of the ureter Nephroblastoma Abnormality of the outer ear Abnormality of the face Premature birth Diastasis recti Macroglossia Hematuria Facial asymmetry Synophrys Deeply set eye Jaundice Polyhydramnios Arthrogryposis multiplex congenita Mild global developmental delay Visual loss Cataract Depressivity Hypertonia Cerebellar atrophy Blindness Cardiomyopathy Skeletal muscle atrophy Hyperreflexia Ataxia Visceromegaly Congenital megaureter Auricular pit Posterior helix pit Hemifacial hypertrophy Anterior creases of earlobe Asymmetry of the thorax Abdominal wall defect Growth hormone deficiency Absent eyebrow Facial palsy Bilateral renal hypoplasia Renal dysplasia Multicystic kidney dysplasia Abnormal intestine morphology Abnormality of the genitourinary system Polycystic kidney dysplasia Unilateral renal agenesis Tracheoesophageal fistula Non-midline cleft lip Breech presentation Bicornuate uterus Vaginal atresia Abnormality of female internal genitalia Bilateral renal agenesis Abnormal sacrum morphology Nonketotic hypoglycemia Primary amenorrhea Urogenital fistula Potter facies Urethral obstruction Sirenomelia Bilateral renal dysplasia Fetal polyuria Delayed speech and language development Macrocephaly Abnormality of the skeletal system Ventriculomegaly Atrial septal defect Behavioral abnormality Kyphosis Osteoporosis Depressed nasal ridge Oligohydramnios Autistic behavior Deep-set nails Abnormality of the liver Tachypnea Hyperammonemia Poor suck Abnormality of coagulation Ketosis Craniosynostosis Vesicoureteral reflux Plagiocephaly Multiple renal cysts Fragile nails Hyperinsulinemic hypoglycemia Moderate global developmental delay Abdominal wall muscle weakness Abnormality of the hairline Renal agenesis Hypertension Pulmonary hypoplasia Falls Talipes Proteinuria Abnormality of cardiovascular system morphology Talipes equinovarus Rotary nystagmus Abnormality of the palpebral fissures Organic aciduria Progressive microcephaly Wide intermamillary distance Thin upper lip vermilion Babinski sign Long philtrum Low-set, posteriorly rotated ears Poor speech Intellectual disability, moderate Thin eyebrow Acanthosis nigricans Precocious puberty Lipodystrophy Clitoral hypertrophy Flat occiput Ovarian neoplasm Protuberant abdomen Insulin-resistant diabetes mellitus Long foot Abnormality of the optic nerve Thick nail Fasting hypoglycemia Long penis Advanced eruption of teeth Choroideremia Preauricular skin tag Abnormal lip morphology Diabetic ketoacidosis Chorioretinal dystrophy Muscle flaccidity Postprandial hyperglycemia Abnormality of upper lip Onychauxis Depressed nasal bridge Motor delay Fatigue Frontal bossing Areflexia Hypogonadism Neonatal hypotonia Narrow face Insulin resistance Highly arched eyebrow Respiratory failure Recurrent fractures Broad nasal tip Nevus Febrile seizures Cafe-au-lait spot Accelerated skeletal maturation Hyperlipidemia Reduced bone mineral density Neoplasm Strabismus High palate Myopia Optic atrophy Upslanted palpebral fissure Dyspnea Short palpebral fissure Hirsutism Epidermal acanthosis Microdontia Specific learning disability Sepsis Microcornea High, narrow palate Thin vermilion border Telecanthus Dry skin Arachnodactyly Smooth philtrum Short philtrum Blepharophimosis Wide mouth Postterm pregnancy


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