Feeding difficulties, and Hyperinsulinemia

Diseases related with Feeding difficulties and Hyperinsulinemia

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

Top matches:

Related symptoms:

  • Global developmental delay
  • Short stature
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about OBESITY DUE TO SIM1 DEFICIENCY

Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.

HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY Is also known as hyperinsulinism due to glutamodehydrogenase deficiency|hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency|schad deficiency|hyperinsulinism due to schad deficiency

Related symptoms:

  • Failure to thrive
  • Motor delay
  • Peripheral neuropathy
  • Intrauterine growth retardation
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY

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

Other less relevant matches:

Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

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

Medium match LEPRECHAUNISM

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome|pws due to a point mutation|pwls|prader-willi-like syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION

Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

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 ALSTRÖM SYNDROME

Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Top 5 symptoms//phenotypes associated to Feeding difficulties and Hyperinsulinemia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Insulin resistance Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Neonatal hypotonia Generalized hypotonia Hypoglycemia Hirsutism Growth delay Abnormal facial shape Elevated hepatic transaminase Glucose intolerance Precocious puberty Acanthosis nigricans Kyphosis Hyperglycemia Epidermal acanthosis Obesity Cognitive impairment Respiratory failure Diabetes mellitus Polyphagia Seizures Strabismus High palate Cryptorchidism Autistic behavior Vomiting Sleep disturbance Behavioral abnormality Ptosis Increased body weight Epicanthus Delayed speech and language development Osteoporosis Recurrent respiratory infections Myopathy Decreased fetal movement Retrognathia Wide mouth Long face Postnatal growth retardation Respiratory insufficiency Autism Type II diabetes mellitus Constipation Accelerated skeletal maturation Hyperlipidemia Clinodactyly Flexion contracture Talipes equinovarus Dysphagia Hypogonadism Failure to thrive in infancy Hypertelorism Growth hormone deficiency Abnormality of the dentition Respiratory distress Myopia Abdominal distention Motor delay Nystagmus Intrauterine growth retardation Specific learning disability Feeding difficulties in infancy Dilated cardiomyopathy Postprandial hyperglycemia Hepatic steatosis Insulin-resistant diabetes mellitus Osteopenia Lipodystrophy Dilatation Hypoventilation Congestive heart failure Hypertension

Rare Symptoms - Less than 30% cases

Depressed nasal bridge Smooth philtrum Arachnodactyly Decreased muscle mass Reduced subcutaneous adipose tissue Large hands Dry skin Long penis High, narrow palate Fasting hypoglycemia Gynecomastia Generalized hirsutism Recurrent infections Clitoral hypertrophy Hepatic fibrosis Long foot Sepsis Delayed skeletal maturation Abnormality of upper lip Ketoacidosis Hypertrichosis Protuberant abdomen Hyperkeratosis Short palpebral fissure Hyperlordosis Lipoatrophy Weight loss Hypertriglyceridemia Bradycardia Atherosclerosis Pancreatitis Polycystic ovaries Skeletal muscle hypertrophy Pain Hyporeflexia Photophobia Myalgia Respiratory tract infection Hypermetropia Carious teeth Delayed puberty Infertility Gastrointestinal hemorrhage Hypogonadotrophic hypogonadism Truncal obesity Poor fine motor coordination Tachycardia Hepatosplenomegaly Ovarian cyst Short foot Adipose tissue loss Short neck Short nose Depressivity Hyperhidrosis Micropenis Gastroesophageal reflux Apnea Small hand Tapered finger Hypothyroidism Esotropia Narrow forehead Sleep apnea Poor suck Hyperventilation Temperature instability Narrow palm Hepatomegaly Splenomegaly Small for gestational age Oligomenorrhea Coarse facial features Reduced bone mineral density Clumsiness Atrial fibrillation Generalized muscle weakness Abnormal glucose tolerance Ophthalmoplegia Muscular dystrophy Peripheral neuropathy Proximal muscle weakness Cardiomyopathy Skeletal muscle atrophy Muscle weakness Febrile seizures Infantile muscular hypotonia Low-set, posteriorly rotated ears Proptosis Ventriculomegaly Abnormality of the skeletal system Pigmentary retinopathy Low-set ears Mildly elevated creatine phosphokinase Prolonged QT interval Hepatic necrosis Fasting hyperinsulinemia Acute hepatic failure Narrow face Hyperinsulinemic hypoglycemia Muscular hypotonia Mandibular prognathia Microcephaly Neoplasm Micrognathia Attention deficit hyperactivity disorder Upslanted palpebral fissure Glycosuria Optic atrophy Dyspnea Hypergonadotropic hypogonadism Urinary incontinence Optic disc pallor Glue ear Hepatitis Cor pulmonale Cyanosis Progressive visual loss Decreased testicular size Otitis media Round face Vesicoureteral reflux Cardiomegaly Asthma Ascites Nephropathy Retinal dystrophy Absence seizures Hepatic failure Abdominal obesity Cirrhosis Nausea Stage 5 chronic kidney disease Nephrocalcinosis Chromosome breakage Receptive language delay Thickened skin Short toe Granular macular appearance Sinusitis Thickened ears Hyperpigmentation of the skin Decreased liver function Abnormality of retinal pigmentation Anorexia Recurrent pneumonia Chronic diarrhea Left ventricular hypertrophy Generalized hypopigmentation Recurrent urinary tract infections Hypothermia Ocular albinism Dilatation of the bladder Involuntary movements Horizontal nystagmus Recurrent otitis media Lymphadenopathy Unilateral breast hypoplasia Pulmonary arterial hypertension Almond-shaped palpebral fissure Retinal degeneration Anteverted ears Localized hirsutism Abnormality of prothrombin Triangular mouth Rod-cone dystrophy Abnormality of renal calyx morphology Pneumonia Alopecia Patent ductus arteriosus Central adrenal insufficiency Visual loss Encephalopathy Hypoplastic labia minora Renal insufficiency Myoclonus Psychotic episodes Dystonia Blindness Fatigue Visual impairment Cataract Sensorineural hearing impairment Ataxia Vitreous haze Hearing impairment Acromicria Poor gross motor coordination EEG with occipital slowing Abdominal pain Hypopnea Irritability Pulmonic stenosis Hypotrichosis Generalized tonic-clonic seizures Clitoral hypoplasia Cough Nyctalopia Retinopathy Recurrent cystitis Scarring Sparse hair Abnormality of the liver Pallor Hyperostosis frontalis interna Polydactyly Abnormality of the kidney Proteinuria Abnormal retinal artery morphology Frontal upsweep of hair Conductive hearing impairment Deeply set eye Erysipelas Jaundice Pes planus Precocious puberty in females Disseminated intravascular coagulation Kyphoscoliosis Widely-spaced incisors Elevated alkaline phosphatase Macular degeneration Elevated serum creatinine Chronic obstructive pulmonary disease Abnormality of the optic disc Chronic fatigue Myocardial fibrosis Decreased glomerular filtration rate Male hypogonadism Abnormal spermatogenesis Oligospermia Myocarditis Tubular atrophy Recurrent bronchitis Chronic infection Hypoplasia of the fovea Restrictive cardiomyopathy Attenuation of retinal blood vessels Abnormality of the urethra Tubulointerstitial nephritis Pendular nystagmus Lumbar scoliosis Abnormality of dental color Gingivitis Epigastric pain Broad foot Posterior subcapsular cataract Poor coordination Alopecia of scalp Esophageal varix High-frequency hearing impairment Retinal atrophy Vertical nystagmus Chills Pyelonephritis Achromatopsia Urinary retention Arteriosclerosis Urethral stenosis Elevated C-reactive protein level Hepatic encephalopathy Abnormality of female external genitalia Multinodular goiter Tubulointerstitial fibrosis Bull's eye maculopathy Increased total bilirubin Decreased HDL cholesterol concentration Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Frontal balding Hematemesis Disinhibition Retinal pigment epithelial atrophy Melena First degree atrioventricular block Endocardial fibroelastosis Abnormal renal morphology Menstrual irregularities Peripheral visual field loss Abnormal chorioretinal morphology Hypercholesterolemia Portal hypertension Facial hirsutism Hyperostosis Acne ST segment depression Impaired vibratory sensation Multifocal atrial tachycardia Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Chronic otitis media Nephritis Polydipsia Childhood-onset truncal obesity Polyuria High-frequency sensorineural hearing impairment Acute pancreatitis Cholelithiasis Abnormality of the hand Goiter Cone/cone-rod dystrophy Increased circulating androgen level Tachypnea Exudative retinopathy Nonproductive cough Abnormal adipose tissue morphology Chronic active hepatitis Diabetes insipidus Emphysema Severe sensorineural hearing impairment Impaired temperature sensation Autoimmune thrombocytopenia Thoracic scoliosis Pericarditis Subcapsular cataract Increased number of teeth Hyperuricemia Bronchitis Glomerulopathy Progressive sensorineural hearing impairment Agenesis of permanent teeth Urethral stricture Short finger Female hypogonadism Chronic hepatic failure Abnormal muscle tone Albuminuria Renovascular hypertension Chorioretinal atrophy Squared iliac bones Pericardial effusion Urethral obstruction Abnormal retinal morphology Urinary urgency Hydroureter Pulmonary fibrosis Abnormality of the pituitary gland Hypoplastic male external genitalia Right ventricular hypertrophy Ventricular arrhythmia Acrocyanosis Thin eyebrow Umbilical hernia Macrotia Severe short stature Inguinal hernia Hernia Onychauxis Muscle flaccidity Chorioretinal dystrophy Diabetic ketoacidosis Abnormal lip morphology Choroideremia Advanced eruption of teeth Nail dysplasia Thick nail Abnormality of the optic nerve Ovarian neoplasm Flat occiput Absent eyebrow Preauricular skin tag Microdontia Microcornea Thin vermilion border Short philtrum Blepharophimosis Telecanthus Thick vermilion border Thick lower lip vermilion Type 1 fibers relatively smaller than type 2 fibers Absence of subcutaneous fat Arthrogryposis multiplex congenita Camptodactyly Polyhydramnios Absent speech Anteverted nares Frontal bossing Brachydactyly Asymmetry of the breasts Prominent nipples Elfin facies Female pseudohermaphroditism Pancreatic islet-cell hyperplasia Cholestasis Abnormality of the abdominal wall Thick nasal alae Small face Concave nasal ridge Severe failure to thrive Thickened nuchal skin fold Hearing abnormality Severe intrauterine growth retardation Hypermelanotic macule Cachexia Cutis laxa Gingival overgrowth Brachycephaly Spinal deformities Thick eyebrow Myoglobinuria Increased C-peptide level Abnormality of acetylcarnitine metabolism Increased circulating free fatty acid level Hypoglycemic encephalopathy Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Dicarboxylic aciduria Hypoglycemic seizures Prolonged prothrombin time Decreased plasma carnitine Hypoketotic hypoglycemia Neonatal hypoglycemia Proportionate short stature Atrial septal defect Hyperammonemia Lactic acidosis Confusion Lethargy Hypertrophic cardiomyopathy Diarrhea Increased resting energy expenditure Postural hypotension with compensatory tachycardia Vitamin B1 deficiency Abnormal autonomic nervous system physiology Memory impairment Hypotension Macrocephaly Cerebral atrophy Limb joint contracture Lower limb muscle weakness Nemaline bodies Difficulty running Centrally nucleated skeletal muscle fibers Weak cry Bulbar palsy Multiple joint contractures Respiratory insufficiency due to muscle weakness Congenital hip dislocation Progressive muscle weakness Lumbar hyperlordosis Waddling gait Limb muscle weakness Posteriorly rotated ears Facial palsy Muscular hypotonia of the trunk Joint laxity Areflexia Deep palmar crease Nevus flammeus Cafe-au-lait spot Nevus Broad nasal tip Recurrent fractures Highly arched eyebrow Poor speech Talipes Inability to walk Overweight Thin upper lip vermilion Hypopigmentation of the skin Downturned corners of mouth Short palm Polymicrogyria Genu valgum Pruritus Dolichocephaly Leukemia Stroke Abnormality of the pinna Abnormality of the nervous system Narrow mouth Hip dysplasia Hyperactivity Prominent forehead Syndactyly Intellectual disability, mild Intellectual disability, severe Edema Fever Muscle mounding Abnormality of skeletal muscle fiber size Cervical spine instability Generalized muscle hypertrophy Prominent umbilicus Full cheeks Amenorrhea Atlantoaxial instability Albinism Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypopigmentation of hair Pulmonary embolism Striae distensae Impaired pain sensation Myeloid leukemia Narrow nasal bridge External genital hypoplasia Adrenal insufficiency Inflammation of the large intestine Abnormality of the cardiovascular system Emotional lability Radial deviation of finger Nasal speech Scrotal hypoplasia Bicuspid aortic valve Narrow palpebral fissure Spontaneous abortion Aortic valve stenosis Primary amenorrhea Cutaneous photosensitivity Psychosis Oligohydramnios Congenital generalized lipodystrophy Polymorphic ventricular tachycardia Wide intermamillary distance Misalignment of teeth Spastic paraplegia Distal muscle weakness Joint stiffness Protruding ear Rigidity Elevated serum creatine phosphokinase Arrhythmia Intermittent hyperventilation Multiple pterygia Abnormality of the philtrum Excessive salivation Fetal akinesia sequence Ventricular hypertrophy Delayed ability to walk Short humerus Limited elbow extension Rocker bottom foot Akinesia Impulsivity Trigonocephaly Pterygium Adducted thumb Microretrognathia Exotropia Open mouth Sudden cardiac death Palpitations Abnormal levels of creatine kinase in blood Spinal rigidity Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Atlantoaxial dislocation Prolonged QTc interval Generalized lipodystrophy Ileus Exercise-induced myalgia Prominent superficial veins Supraventricular tachycardia Progressive proximal muscle weakness IgA deficiency Secondary amenorrhea Increased variability in muscle fiber diameter Thin skin Cutis marmorata Ventricular fibrillation Prominent supraorbital ridges Pyloric stenosis Delayed gross motor development Ventricular tachycardia Recurrent bacterial infections Exercise intolerance Pointed chin Muscle stiffness Sparse and thin eyebrow Long eyelashes Abnormality of the femoral head


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