Feeding difficulties, and Hyperlipidemia

Diseases related with Feeding difficulties and Hyperlipidemia

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

Top matches:

CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood (Bougneres et al., 1981)

CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY Is also known as cpt deficiency, hepatic, type i|cpt i deficiency|carnitine palmitoyltransferase ia deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY

Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy

Related symptoms:

  • Pain
  • Vomiting
  • Diarrhea
  • Acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

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:

EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

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

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.

TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS Is also known as transient infantile hypertriglyceridemia and fatty liver

Related symptoms:

  • Short stature
  • Failure to thrive
  • Hepatomegaly
  • Vomiting
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about TRANSIENT INFANTILE HYPERTRIGLYCERIDEMIA AND HEPATOSTEATOSIS

SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

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 Hyperlipidemia

Symptoms // Phenotype % cases
Hypertriglyceridemia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Global developmental delay Behavioral abnormality Hepatic steatosis Hepatomegaly Hypercholesterolemia Vomiting Delayed speech and language development Hypothyroidism Constipation Short stature Failure to thrive Obesity Myopathy Hyperlordosis Elevated serum creatine phosphokinase Deeply set eye Conductive hearing impairment Accelerated skeletal maturation Strabismus Pancreatitis Hyperinsulinemia Pain Muscular hypotonia Sleep disturbance Hypertelorism Peripheral neuropathy Arrhythmia Wide nasal bridge Pes planus Lipodystrophy Sudden cardiac death Congestive heart failure Midface retrusion Gastroesophageal reflux Hyporeflexia Increased body weight Feeding difficulties in infancy Kyphosis Ventriculomegaly Splenomegaly Abnormality of the liver Joint stiffness

Rare Symptoms - Less than 30% cases

Microcephaly Micrognathia Abnormality of upper lip Polycystic ovaries Failure to thrive in infancy Hirsutism Atherosclerosis Dilatation Bradycardia Ventricular arrhythmia Mildly elevated creatine phosphokinase Spinal rigidity Progressive proximal muscle weakness Hypertension Diabetes mellitus Acanthosis nigricans Hepatosplenomegaly Myalgia Postnatal growth retardation Tachycardia Growth hormone deficiency Epidermal acanthosis Insulin resistance Cleft palate Upslanted palpebral fissure Brachydactyly Sinusitis Hyperacusis Abnormal tracheobronchial morphology Abnormality of the cardiovascular system Hepatic fibrosis Hearing impairment Abnormal renal morphology Ataxia Growth delay Self-injurious behavior Sensorineural hearing impairment Cataract Abnormality of the dentition Clinodactyly Abnormality of the kidney Otitis media Dry skin Nephropathy Impaired pain sensation Chronic otitis media Myopia Mandibular prognathia Frontal bossing Anteverted nares Short nose Abnormality of cardiovascular system morphology Clinodactyly of the 5th finger Brachycephaly Atrial fibrillation EEG abnormality Precocious puberty Anxiety Synophrys Delayed puberty Retinal detachment Microcornea Decreased fetal movement Stereotypy Hoarse voice Palpitations Motor delay Falls Muscle weakness Diarrhea Acidosis Hypoglycemia Neonatal hypotonia Rigidity Hypertrophic cardiomyopathy Dyspnea Pes cavus Cardiomyopathy Respiratory insufficiency Epicanthus Flexion contracture Deep palmar crease Proximal muscle weakness Neurological speech impairment Lethargy Reduced bone mineral density Hepatic failure Sepsis Cardiomegaly Reduced tendon reflexes Elevated serum creatinine Autistic behavior Osteoporosis Posteriorly rotated ears Ptosis Abnormality of the skeletal system Fatigue Gait disturbance Low-set ears Dilated cardiomyopathy Muscular dystrophy Skeletal muscle atrophy Blindness Decreased liver function Absence seizures Nephrocalcinosis Hypogonadotrophic hypogonadism Generalized hirsutism Horizontal nystagmus Recurrent pneumonia Hypergonadotropic hypogonadism Short toe Gynecomastia Hyperpigmentation of the skin Abnormality of retinal pigmentation Pulmonary arterial hypertension Anorexia Type II diabetes mellitus Short neck Thickened skin Dystonia Left ventricular hypertrophy Recurrent urinary tract infections Involuntary movements Recurrent otitis media Respiratory distress Chronic diarrhea Macular degeneration Tachypnea Hyperostosis Sleep-wake inversion Nystagmus Pulmonary fibrosis Cognitive impairment Visual impairment Emphysema Polyuria Glucose intolerance Diabetes insipidus Optic atrophy Hyperglycemia Acne Cone/cone-rod dystrophy Impaired vibratory sensation Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Nephritis Polydipsia Portal hypertension Elevated alkaline phosphatase Cholelithiasis Abnormality of the hand Goiter Optic disc pallor Weight loss Hepatitis Respiratory failure Abdominal pain Retinal degeneration Infertility Carious teeth Polydactyly Pulmonic stenosis Ophthalmoplegia Hypermetropia Hypotrichosis Generalized tonic-clonic seizures Cough Nyctalopia Stage 5 chronic kidney disease Retinopathy Scarring Sparse hair Pallor Hyperkeratosis Respiratory tract infection Irritability Proteinuria Photophobia Jaundice Kyphoscoliosis Lymphadenopathy Hypogonadism Autism Urinary incontinence Cyanosis Renal insufficiency Depressivity Specific learning disability Progressive visual loss Encephalopathy Visual loss Decreased testicular size Patent ductus arteriosus Gastrointestinal hemorrhage Round face Vesicoureteral reflux Hyperhidrosis Alopecia Pneumonia Asthma Recurrent respiratory infections Abdominal distention Rod-cone dystrophy Ascites Retinal dystrophy Myoclonus Cirrhosis Nausea Pigmentary retinopathy Chorioretinal atrophy Hydroureter Abnormal spermatogenesis Renovascular hypertension Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Chronic infection Decreased glomerular filtration rate Urethral obstruction Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Hepatic encephalopathy Urethral stenosis Achromatopsia Squared iliac bones Abnormality of the pituitary gland Chills Granular macular appearance Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Glue ear Unilateral breast hypoplasia Dilatation of the bladder Thickened ears Receptive language delay Hypoplastic male external genitalia Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Facial hirsutism Chronic hepatic failure Hepatic necrosis Acute pancreatitis Pyelonephritis Urinary urgency Pericarditis Posterior subcapsular cataract Oligomenorrhea Poor coordination Hyperventilation Alopecia of scalp Peripheral visual field loss Retinal atrophy Insulin-resistant diabetes mellitus Hypoventilation Severe sensorineural hearing impairment Autoimmune thrombocytopenia Thoracic scoliosis Subcapsular cataract Ketoacidosis Increased number of teeth Hyperuricemia Bronchitis Glycosuria Glomerulopathy Progressive sensorineural hearing impairment Agenesis of permanent teeth Short finger Polyphagia Head-banging Pericardial effusion Abnormal retinal morphology Truncal obesity Broad foot Gingivitis Poor fine motor coordination High-frequency hearing impairment Urinary retention Arteriosclerosis Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Abnormal renal physiology Disinhibition Retinal pigment epithelial atrophy Endocardial fibroelastosis Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst Restrictive cardiomyopathy Pendular nystagmus Esophageal varix Chronic obstructive pulmonary disease Chronic fatigue Myocardial fibrosis Male hypogonadism Oligospermia Myocarditis Tubular atrophy Recurrent bronchitis Acute hepatic failure Right ventricular hypertrophy Attenuation of retinal blood vessels Tubulointerstitial nephritis Frequent temper tantrums Bruxism Abnormality of the forearm Exercise intolerance Ventricular fibrillation Recurrent fractures Prominent supraorbital ridges Pyloric stenosis Broad nasal tip Delayed gross motor development Ventricular tachycardia Nevus Febrile seizures Cafe-au-lait spot Recurrent bacterial infections Pointed chin Cutis marmorata Muscle stiffness Sparse and thin eyebrow Long eyelashes Thin skin Ventricular hypertrophy Nevus flammeus Generalized muscle weakness Spastic paraplegia Distal muscle weakness Protruding ear High palate Osteopenia Skeletal muscle hypertrophy Increased variability in muscle fiber diameter Delayed skeletal maturation Loss of subcutaneous adipose tissue in limbs Adipose tissue loss Muscle mounding Abnormality of skeletal muscle fiber size Cervical spine instability Generalized muscle hypertrophy Prominent umbilicus Highly arched eyebrow Congenital generalized lipodystrophy Atlantoaxial instability Polymorphic ventricular tachycardia Abnormal levels of creatine kinase in blood Fasting hyperinsulinemia Dysmenorrhea Prolonged QT interval Atlantoaxial dislocation Prolonged QTc interval Generalized lipodystrophy Ileus Exercise-induced myalgia Prominent superficial veins Supraventricular tachycardia Protuberant abdomen IgA deficiency Secondary amenorrhea Lipoatrophy Reduced subcutaneous adipose tissue Pectus excavatum Recurrent infections Poor speech Atrioventricular block Sprengel anomaly Ankle contracture Rimmed vacuoles Facial palsy Difficulty climbing stairs Calf muscle hypertrophy Toe walking Myotonia Congenital muscular dystrophy Spinal muscular atrophy Limb-girdle muscular dystrophy Back pain Limb muscle weakness Vocal cord paralysis EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Scapular winging Knee flexion contracture Elbow flexion contracture Lower limb muscle weakness Progressive muscle weakness Frequent falls Ichthyosis Vertigo Myocardial infarction Waddling gait Heart block Proximal amyotrophy Difficulty walking Limb-girdle muscle atrophy Talipes equinovarus Dysphagia Absent muscle fiber emerin Restricted neck movement due to contractures Decreased cervical spine flexion due to contractures of posterior cervical muscles Proximal spinal muscular atrophy Type 1 muscle fiber atrophy Proximal upper limb amyotrophy Scapuloperoneal amyotrophy Ventricular escape rhythm Peroneal muscle weakness Left anterior fascicular block Proximal muscle weakness in upper limbs Limb-girdle muscle weakness Proximal lower limb amyotrophy Peroneal muscle atrophy Shoulder girdle muscle atrophy Atrial arrhythmia Increased LDL cholesterol concentration Abnormal atrioventricular conduction Supraventricular arrhythmia Proximal muscle weakness in lower limbs Distal lower limb muscle weakness Achilles tendon contracture Shoulder girdle muscle weakness Distal lower limb amyotrophy Long face Low-set, posteriorly rotated ears Midline brain calcifications Macroglossia Drooling Abnormality of the outer ear Lissencephaly Abnormal vertebral morphology Hypoplasia of dental enamel Heterotopia Pachygyria Omphalocele Broad-based gait Esotropia Full cheeks Delayed eruption of teeth Abnormality of the urinary system Single transverse palmar crease Small hand Short palm Oral cleft Paresthesia Microtia Paralysis Cleft lip Intellectual disability, moderate Aggressive behavior High forehead Polyhydramnios Sacral dimple Poor suck Hyperactivity Thick upper lip vermilion Morphological abnormality of the middle ear Pelvic kidney Premature atrial contractions Mood changes Recurrent aspiration pneumonia Excessive daytime sleepiness Velopharyngeal insufficiency Everted upper lip vermilion Recurrent ear infections Cavum septum pellucidum Abnormality of the larynx Broad face Duodenal atresia Impulsivity Syncope Short attention span Chronic constipation Self-mutilation Overweight Drowsiness Protruding tongue Broad palm Abnormality of the immune system Progressive spastic paraplegia Abnormality of the thyroid gland Open bite Cerebral cortical atrophy Prominent forehead Retrognathia Attention deficit hyperactivity disorder Abnormal form of the vertebral bodies Open mouth Reye syndrome-like episodes Recurrent encephalopathy Hyperemesis gravidarum Transient hyperlipidemia Cleft upper lip Metabolic acidosis Toe syndactyly Abnormal intestine morphology Broad forehead Short philtrum Hypoalbuminemia Hepatocellular necrosis Hyponatremia Malnutrition Villous atrophy Protein-losing enteropathy Enterocolitis Intractable diarrhea Abnormal facial shape Macrocephaly Atrial septal defect Cerebral atrophy Proptosis Depressed nasal bridge Acute hepatic steatosis Aplasia/Hypoplasia of the corpus callosum Inguinal hernia Loss of consciousness Abnormal heart morphology Areflexia Abnormality of metabolism/homeostasis Malar flattening Edema Hypoplasia of the corpus callosum Intrauterine growth retardation Cryptorchidism Coma Hyperbilirubinemia Hyperammonemia Hemiplegia/hemiparesis Corticospinal tract hypoplasia Renal hypoplasia/aplasia Renal tubular acidosis Delayed eruption of primary teeth Large face Abnormal localization of kidney Taurodontia Abnormality of the ureter Conjugated hyperbilirubinemia Hypoketotic hypoglycemia Nonketotic hypoglycemia Hand polydactyly Prenatal maternal abnormality Tented upper lip vermilion Abnormality of the femoral head


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Lymphadenopathy, related diseases and genetic alterations Hypertension and Macroglossia, related diseases and genetic alterations Nystagmus and Apraxia, related diseases and genetic alterations Short stature and Recurrent infections, related diseases and genetic alterations Failure to thrive and Pancytopenia, related diseases and genetic alterations Flexion contracture and Sinusitis, related diseases and genetic alterations