Micrognathia, and Hypertrophic cardiomyopathy

Diseases related with Micrognathia and Hypertrophic cardiomyopathy

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

Top matches:

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

Other less relevant matches:

Medium match WAGR SYNDROME

WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Related symptoms:

  • Micrognathia
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY

Medium match ALG1-CDG

ALG1-CDG is a severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

ALG1-CDG Is also known as cdg1k|cdgik|cdg syndrome type ik|congenital disorder of glycosylation type 1k|cdg-ik|mannosyltransferase 1 deficiency|cdg ik|congenital disorder of glycosylation type ik|carbohydrate deficient glycoprotein syndrome type ik

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALG1-CDG

A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

Medium match COG7-CDG

COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.

8P23.1 MICRODELETION SYNDROME Is also known as del(8)(p23.1)|monosomy 8p23.1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MESH MENDELIAN

More info about 8P23.1 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Hypertrophic cardiomyopathy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Micrognathia and Hypertrophic cardiomyopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Congestive heart failure Hepatomegaly Short stature Intellectual disability Feeding difficulties Failure to thrive Increased serum lactate Respiratory insufficiency Muscular hypotonia Cryptorchidism Upslanted palpebral fissure Growth delay Hypospadias Cataract Deeply set eye

Rare Symptoms - Less than 30% cases

Areflexia Flexion contracture Cerebellar atrophy Abnormality of the skeletal system Short philtrum Frontal bossing Pulmonic stenosis Long face Hypertension Intrauterine growth retardation Ataxia Cerebral atrophy Jaundice High palate Behavioral abnormality Hepatosplenomegaly Short neck Thin vermilion border Abnormality of immune system physiology Scoliosis Nystagmus Low-set ears Abnormality of cardiovascular system morphology Nephropathy Prominent nasal bridge Obesity High forehead Lactic acidosis Abnormal heart morphology Aciduria Abnormal facial shape Myopathy Wide mouth Splenomegaly Myalgia Ascites Cardiomegaly Short nose Acidosis Decreased adiponectin level Abnormal atrioventricular conduction Large fontanelles Portal hypertension Abnormality of coagulation Nonimmune hydrops fetalis Type I transferrin isoform profile Abnormality of the amniotic fluid Progeroid facial appearance Hepatic failure Budd-Chiari syndrome Secondary amenorrhea Supraventricular arrhythmia Advanced eruption of teeth Decreased HDL cholesterol concentration Osteolytic defects of the phalanges of the hand Precocious atherosclerosis Nephrotic syndrome Proximal upper limb muscle hypertrophy Increased intraabdominal fat Edema Acroosteolysis of distal phalanges (feet) Minimal subcutaneous fat Increased adipose tissue around the neck Accelerated atherosclerosis Xanthomatosis Decreased serum leptin Reduced subcutaneous adipose tissue Blindness Hypertelorism Increased facial adipose tissue Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Hypogonadism Muscle hypertrophy of the lower extremities Narrow nasal ridge Lipoatrophy Aplasia/Hypoplasia of the skin Cerebral cortical atrophy Severe lactic acidosis Retrognathia Poor speech Areflexia of lower limbs Abnormal glycosylation Mild proteinuria Strabismus Epicanthus Wide nasal bridge Downslanted palpebral fissures Intellectual disability, mild Patent ductus arteriosus Weight loss Pes planus Abnormal cardiac septum morphology Attention deficit hyperactivity disorder Tapered finger Distal arthrogryposis Full cheeks Wide intermamillary distance Tetralogy of Fallot Congenital diaphragmatic hernia Broad thumb Proximal placement of thumb Hypoplastic left heart Atrioventricular canal defect Transposition of the great arteries Biparietal narrowing External ear malformation Pulmonary artery stenosis Broad hallux phalanx Abnormal aortic morphology Premature skin wrinkling Inverted nipples Camptodactyly Fever Metabolic acidosis Oligohydramnios Renal hypoplasia Aortic valve stenosis Cardiac arrest Spontaneous abortion Severe muscular hypotonia Hyperammonemia Rocker bottom foot Severe failure to thrive Premature graying of hair 3-Methylglutaconic aciduria Anemia Diarrhea Protruding tongue Recurrent infections Thrombocytopenia Elevated hepatic transaminase Proteinuria Abnormality of the pinna Abnormality of the liver Arthrogryposis multiplex congenita Flat face Thick vermilion border Polyneuropathy Delayed myelination Dehydration Cholestasis Adducted thumb Coronary artery atherosclerosis Inability to walk Skeletal muscle hypertrophy Mitral valve prolapse Dyspnea Thin upper lip vermilion Joint laxity Intellectual disability, moderate Broad forehead Tachycardia High, narrow palate Small hand Chest pain Convex nasal ridge Limb undergrowth Abnormality of the cardiovascular system Atrial fibrillation Pectus excavatum Mitral regurgitation Dental crowding Aortic regurgitation Disproportionate tall stature Abnormal heart valve morphology Striae distensae Thromboembolism Supraventricular tachycardia Endocarditis Tricuspid valve prolapse Asthenia Mastoiditis Bacterial endocarditis Posteriorly rotated ears Long philtrum Reversed usual vertebral column curves Hypoglycemia Depressed nasal bridge Anteverted nares Hypertonia Midface retrusion Dilated cardiomyopathy Facial asymmetry Bulbous nose Gliosis Neuronal loss in central nervous system Left ventricular noncompaction Hyperalaninemia Respiratory distress Macroglossia Atrial septal defect Hypotension Cyanosis Bradycardia Exercise intolerance Heart murmur Neonatal hypoglycemia Enlarged kidney Myoglobinuria Sinus bradycardia Pulmonary edema Biventricular hypertrophy Shortened PR interval Pain Quadricuspid aortic valve Neoplasm Lipodystrophy Optic nerve hypoplasia Gait ataxia Mandibular prognathia Muscular hypotonia of the trunk Pectus carinatum Congenital cataract Delayed puberty Abnormality of the foot Peripheral axonal neuropathy Distal amyotrophy Esotropia Hip dysplasia Absence seizures Abnormality of mitochondrial metabolism Absent speech Diabetes mellitus Hepatic steatosis Round face Hypertriglyceridemia Thin skin Insulin resistance Abnormality of the nail Generalized hirsutism Acanthosis nigricans Pancreatitis Atherosclerosis Ventricular arrhythmia Polycystic ovaries Delayed skeletal maturation Optic atrophy Ptosis Acute lymphoblastic leukemia Visual impairment Renal insufficiency Microphthalmia Glaucoma Corneal opacity Leukemia Everted lower lip vermilion Microcornea Ambiguous genitalia Abnormality of the genital system Abnormality of the genitourinary system Nephroblastoma Aniridia Hearing abnormality Myopia Renal neoplasm Hemihypertrophy Abnormality of the uterus Gonadoblastoma Peters anomaly Abnormal vagina morphology Aplasia/Hypoplasia of the iris Streak ovary Displacement of the external urethral meatus Dysfunction of lateral corticospinal tracts Spasticity Delayed speech and language development Peripheral neuropathy Enlarged thorax


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