Micrognathia, and Lethargy

Diseases related with Micrognathia and Lethargy

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

Top matches:

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

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF ) (summary by Coelho et al., 2012).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblj|methylmalonic aciduria with homocystinuria, type cblj|cblj defects|cobalamin j defect

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ

Other less relevant matches:

Medium match HIRSCHSPRUNG DISEASE

Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

HIRSCHSPRUNG DISEASE Is also known as hscr|aganglionic megacolon|congenital intestinal aganglionosis|hirschsprung disease|megacolon, aganglionic|mgc

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE

Medium match OGDEN SYNDROME

Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.

OGDEN SYNDROME Is also known as n-terminal acetyltransferase deficiency|premature aging appearance-developmental delay-cardiac arrhythmia syndrome|natd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OGDEN SYNDROME

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

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

Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.

GAMMA-AMINOBUTYRIC ACID TRANSAMINASE DEFICIENCY Is also known as gaba transaminase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hyperreflexia
  • Downslanted palpebral fissures


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAMMA-AMINOBUTYRIC ACID TRANSAMINASE DEFICIENCY

Low match BARTH SYNDROME

Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.

BARTH SYNDROME Is also known as bths|3-methylglutaconic aciduria type 2|mgca2|x-linked cardioskeletal myopathy and neutropenia|cardioskeletal myopathy with neutropenia and abnormal mitochondria|mga2|mga, type ii|cardioskeletal myopathy-neutropenia syndrome|3-methylglutaconic aciduria, t

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BARTH SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Lethargy

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Vomiting Short stature Respiratory distress Feeding difficulties Microcephaly Encephalopathy Atrial septal defect Seizures Edema Hypertelorism Intrauterine growth retardation Peripheral neuropathy Scoliosis Mandibular prognathia Ataxia Abnormal heart morphology Sensorineural hearing impairment Congestive heart failure Aciduria Fatigue Cryptorchidism Strabismus Myopathy Shock Deeply set eye Downslanted palpebral fissures Coarctation of aorta Prominent forehead Neutropenia Inguinal hernia Cardiogenic shock Anemia Everted upper lip vermilion Pain Myoclonus Cardiomyopathy Diarrhea Acidosis Sepsis Muscle weakness Cerebral atrophy Abnormal facial shape Wide nasal bridge Frontal bossing Ventriculomegaly Hearing impairment Behavioral abnormality

Rare Symptoms - Less than 30% cases

Talipes equinovarus Abnormality of movement High palate Low-set ears Proximal muscle weakness Hypertrophic cardiomyopathy Feeding difficulties in infancy Stroke Increased body weight Severe global developmental delay Low anterior hairline Talipes Long eyelashes Hypoglycemia Nausea and vomiting Exercise intolerance Constipation Lactic acidosis Ptosis Spasticity Leukodystrophy Motor delay Hyperreflexia Epicanthus Hydrops fetalis Dystonia Thick upper lip vermilion Mitochondrial myopathy Retrognathia Cleft lip Areflexia Cleft palate Pallor Hyporeflexia Full cheeks Esotropia Agenesis of corpus callosum Poor eye contact Ventricular septal defect Delayed cranial suture closure Stereotypy Small hand Muscular hypotonia of the trunk Premature birth EEG abnormality Hernia Midface retrusion Recurrent infections Abnormality of the dentition Macrotia Arrhythmia Hypsarrhythmia Macrocephaly Gastroesophageal reflux Thrombocytopenia Coarse facial features Hyperactivity Muscular hypotonia Visual impairment Anteverted nares Malnutrition Respiratory insufficiency Blindness Infantile encephalopathy Malar flattening Anteverted ears Brachycephaly Cerebral cortical atrophy Apnea Enterocolitis Protruding ear Irritability Severe muscular hypotonia Hypercholesterolemia Metabolic acidosis Intellectual disability, moderate Granulocytopenia Abnormality of metabolism/homeostasis Abnormality of cardiovascular system morphology Short nose Hypoplasia of the corpus callosum Abnormal endocardium morphology Myopia Abnormality of neutrophils Dry skin Brachydactyly 3-Methylglutaconic aciduria Delayed speech and language development Cataract Exercise-induced lactic acidemia Acute necrotizing encephalopathy Abnormal mitochondria in muscle tissue Synophrys Clinodactyly Obesity Polyhydramnios Aggressive behavior Anxiety Conductive hearing impairment Hyperlordosis Pyoderma Pes planus High forehead Paralysis Prolonged QTc interval Hypothyroidism Upslanted palpebral fissure Posteriorly rotated ears Microtia Pes cavus Clinodactyly of the 5th finger Abnormality of the kidney Congenital lactic acidosis Multifocal epileptiform discharges Necrotizing encephalopathy Increased mitochondrial number Abnormal mitochondrial shape Adrenal insufficiency Oral-pharyngeal dysphagia Incoordination Ragged-red muscle fibers Agranulocytosis Leukoencephalopathy Pancreatitis Cyclic neutropenia Recurrent infections in infancy and early childhood Pericardial effusion Horizontal nystagmus Cardiac arrest Aspiration Wide anterior fontanel Left ventricular hypertrophy Ventricular hypertrophy Cardiomegaly Congenital diaphragmatic hernia Optic disc pallor Global brain atrophy Abnormal mitochondrial morphology Progressive macrocephaly Wolff-Parkinson-White syndrome Macrovesicular hepatic steatosis Biventricular hypertrophy Axial dystonia Decreased activity of mitochondrial respiratory chain Stiff neck Acute pancreatitis Paresthesia Severe lactic acidosis Corpus callosum atrophy Increased CSF lactate Progressive spasticity Nemaline bodies Aspiration pneumonia Cardiorespiratory arrest Progressive encephalopathy Optic neuropathy Renal tubular acidosis Basal ganglia calcification Weak cry Monocytosis Cerebral edema Oral cleft Hypocholesterolemia Deep palmar crease Pelvic kidney Premature atrial contractions Hyperacusis Mood changes Recurrent aspiration pneumonia Excessive daytime sleepiness Velopharyngeal insufficiency Recurrent ear infections Cavum septum pellucidum Abnormal renal morphology Abnormality of the larynx Morphological abnormality of the middle ear Broad face Specific learning disability Eczema Duodenal atresia Spontaneous abortion Recurrent bacterial infections Bruxism Hyperammonemia Ventricular arrhythmia Easy fatigability Abnormality of upper lip Abnormal tracheobronchial morphology Short attention span Ophthalmoplegia High-pitched cry Gait disturbance Dilatation Pectus excavatum Abnormal cortical gyration Osteopenia Facial palsy Broad forehead Dilated cardiomyopathy Spastic tetraparesis Delayed puberty Midline brain calcifications Tall stature Choreoathetosis Tetraparesis Cerebellar hypoplasia Sudden cardiac death Absent speech Sleep-wake inversion Frequent temper tantrums Head-banging Abnormality of the forearm Round face Cyanosis Chronic constipation Abnormality of the mitochondrion Skeletal myopathy Pachygyria Decreased plasma carnitine Omphalocele Recurrent aphthous stomatitis Broad-based gait Hypertriglyceridemia Decreased fetal movement Abnormality of the cardiovascular system Otitis media Left ventricular failure Macroglossia Hypoplasia of dental enamel Microcornea Endocardial fibroelastosis Delayed eruption of teeth Single transverse palmar crease Sleep disturbance Retinal detachment Nephropathy Short palm Falls Posterior fossa cyst Heterotopia Sinusitis Abnormality of mitochondrial metabolism Organic aciduria Self-mutilation Myopathic facies Overweight Poor appetite Drowsiness Protruding tongue Impaired pain sensation Broad palm Abnormality of the immune system Progressive spastic paraplegia Abnormality of the thyroid gland Abnormal vertebral morphology Open bite Impulsivity Self-injurious behavior Poor suck Left ventricular noncompaction Abnormality of the urinary system Sacral dimple Drooling Abnormality of the outer ear Lissencephaly Hoarse voice Pigmentary retinopathy Congenital hypoplastic anemia Febrile seizures Flat occiput Functional abnormality of the gastrointestinal tract Neoplasm of the thyroid gland Total colonic aganglionosis Central hypoventilation Intestinal polyposis Neoplasm of the endocrine system Heterochromia iridis Hypoventilation Long nose Intestinal obstruction Total intestinal aganglionosis Failure to thrive in infancy Adducted thumb Abnormal autonomic nervous system physiology Aganglionic megacolon Sloping forehead Dental malocclusion Abdominal distention Thick eyebrow Prominent nasal bridge Weight loss Intestinal perforation Abnormality of enteric ganglion morphology Hypogonadism Highly arched eyebrow Cutis laxa Ventricular tachycardia Torticollis Microretrognathia Sparse and thin eyebrow Fine hair Narrow forehead Waddling gait Underdeveloped nasal alae High, narrow palate Depressed nasal bridge Tachycardia Abnormality of the foot Pectus carinatum Autistic behavior Postnatal growth retardation Neonatal hypotonia Thin upper lip vermilion Proptosis Delayed skeletal maturation Hypertonia Abdominal pain Fever Delayed gross motor development Focal-onset seizure Increased CSF protein Turricephaly Stridor Focal impaired awareness seizure Aortic regurgitation Absence seizures Cerebral visual impairment Involuntary movements Epileptic encephalopathy Broad nasal tip Delayed CNS myelination Flat face Dolichocephaly Skeletal dysplasia Intractable diarrhea Protein-losing enteropathy Villous atrophy Hyponatremia Hypoalbuminemia Abnormal intestine morphology Hyperlipidemia Dilation of lateral ventricles Periventricular leukomalacia Neoplasm Bell-shaped thorax Decreased methionine synthase activity Decreased adenosylcobalamin Decreased methylcobalamin Hyperhomocystinemia Methylmalonic acidemia Horizontal ribs Abnormal posturing Homocystinuria Methylmalonic aciduria Tachypnea Episodic vomiting Pulmonary arterial hypertension Wide intermamillary distance Hypertension Multifocal cerebral white matter abnormalities D-2-hydroxyglutaric aciduria Subependymal cysts Glutaric aciduria Narrow naris Inspiratory stridor Generalized tonic seizures Scrotal hypoplasia Coarse hair Increased serum lactate Transient erythroblastopenia Renal insufficiency Cerebellar atrophy Dysphagia Optic atrophy Skeletal muscle atrophy Hepatomegaly Nystagmus Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Bifid thoracic vertebrae Babinski sign Elevated red cell adenosine deaminase activity Hypoplastic anemia Persistence of hemoglobin F Branchial cyst Erythroid hypoplasia Partial duplication of thumb phalanx Parietal foramina Unilateral cleft lip Reticulocytopenia Anemia of inadequate production Patent ductus arteriosus Pneumonia Aplastic anemia Hepatic failure Migraine Brain atrophy Gliosis Generalized myoclonic seizures Progressive cerebellar ataxia Abnormal cerebellum morphology Coma Hepatic steatosis Dyskinesia Stage 5 chronic kidney disease Respiratory failure Abnormality of eye movement Limb muscle weakness Abnormal pyramidal sign Retinopathy Abnormality of the liver Developmental regression Mental deterioration Abnormality of the eye Myalgia Kyphoscoliosis Increased mean corpuscular volume 11 pairs of ribs Deep philtrum Acetabular dysplasia Flexion contracture Facial wrinkling Enlarged naris Minimal subcutaneous fat Abnormality of the forehead Abnormal head movements Abnormality of the nares Capillary malformation Premature coronary artery atherosclerosis Unilateral cryptorchidism Glaucoma Torsade de pointes Supraventricular tachycardia Shuffling gait Excessive daytime somnolence Ventricular extrasystoles Short columella Pulmonary artery stenosis Aplasia/Hypoplasia of the eyebrow Broad hallux Redundant skin Short neck Abnormal cardiac septum morphology Osteosarcoma Myelodysplasia Hypoplastic ilia Thrombocytosis Macrocytic anemia Acute myeloid leukemia Myeloid leukemia Absent thumb Vertebral fusion Colon cancer Congenital glaucoma Triphalangeal thumb Abnormality of the hand Leukemia Hypoplasia of the radius Abnormal dermatoglyphics Bone marrow hypocellularity Short thumb Depressed nasal ridge Pancytopenia Webbed neck Nausea Cleft upper lip Narrow chest Intermittent lactic acidemia


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