Generalized hypotonia, and Pulmonic stenosis

Diseases related with Generalized hypotonia and Pulmonic stenosis

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Pulmonic stenosis that can help you solving undiagnosed cases.

Top matches:

Autosomal recessive infantile hypercalcemia is a rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.

AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA Is also known as familial infantile hypercalcemia with suppressed intact parathyroid hormone|hypercalcemia, idiopathic, of infancy

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA

High match SARCOSINEMIA

Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.

SARCOSINEMIA Is also known as sard deficiency|sardhd|sarcosine dehydrogenase complex deficiency|sardh deficiency|hypersarcosinemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SARCOSINEMIA

Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about PITT-HOPKINS-LIKE SYNDROME

Other less relevant matches:

Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).

ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY Is also known as ibd deficiency|acad8 deficiency|acyl-coa dehydrogenase family, member 8, deficiency of|isobutyric aciduria

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY

Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.

HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY Is also known as mental retardation, autosomal recessive 8, formerly|adk hypermethioninemia|mrt8, formerly|hypermethioninemia encephalopathy due to adk deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Pulmonic stenosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Pulmonic stenosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Atrial septal defect Global developmental delay Failure to thrive Cardiomyopathy Epicanthus Low-set ears Delayed speech and language development Abnormal facial shape Growth delay Scoliosis Hypertrophic cardiomyopathy Hearing impairment

Rare Symptoms - Less than 30% cases

Broad forehead Hyperkeratosis Wide mouth Developmental regression Dehydration Secundum atrial septal defect Vomiting Short stature Coarctation of aorta Ptosis Downslanted palpebral fissures Abnormal heart morphology Webbed neck Depressed nasal bridge Curly hair Macrocephaly Cerebral atrophy Intellectual disability, mild High forehead Optic atrophy Sensorineural hearing impairment Edema Myopia Wide nasal bridge Epiphyseal stippling Motor delay Perimembranous ventricular septal defect Sparse hair Cataract Right aortic arch Cryptorchidism Narrow foot Hypermethioninemia Hyperbilirubinemia Decreased liver function Progressive muscle weakness Cholestasis Hepatic steatosis Poor speech Elevated hepatic transaminase Frontal bossing Skeletal muscle atrophy Muscle weakness Portal fibrosis Cafe-au-lait spot Leukemia Abnormality of the pinna Micrognathia Hepatomegaly Ventricular septal defect Tethered cord Double outlet right ventricle Cystic hygroma Hypoplastic left heart Absence seizures Cerebral visual impairment Congestive heart failure Areflexia Wide intermamillary distance Severe global developmental delay Round face Jaundice Growth hormone deficiency Asymmetry of the thorax High palate Decreased fetal movement Prominent nose Relative macrocephaly Bilateral ptosis Broad neck Long eyebrows Umbilical hernia Flexion contracture Ventriculomegaly Respiratory distress Blindness Hernia Patent ductus arteriosus Juvenile myelomonocytic leukemia Neonatal hyperbilirubinemia Abnormality of the palpebral fissures Aciduria Broad-based gait Epileptic encephalopathy Unsteady gait Autistic behavior Gastroesophageal reflux Myoclonus Constipation Encephalopathy Intellectual disability, severe Strabismus Hypersarcosinemia Glutaric aciduria Loss of speech Tetraparesis Abnormal pyramidal sign Drooling Ataxia Elfin facies Medullary nephrocalcinosis Infantile hypercalcemia Polyuria Hypercalcemia Hypercalciuria Nephrocalcinosis Aortic valve stenosis Nephrolithiasis Thick lower lip vermilion Lethargy Abnormality of the eye Weight loss Stereotypy Self-injurious behavior Hyperkeratosis pilaris Dilated cardiomyopathy Heat intolerance Reduced bone mineral density Nevus Postnatal growth retardation Hyperhidrosis Pectus excavatum Hypoplasia of the corpus callosum Nystagmus Pyelonephritis Peripheral pulmonary artery stenosis Decreased plasma carnitine Mild global developmental delay Cardiomegaly Asthma Anemia Atonic seizures Thickened helices Mild short stature Poor suck Hyperpigmentation of the skin Narrow forehead Dolichocephaly Pectus carinatum Prominent forehead Short neck Abnormality of the skeletal system Dysphagia Cognitive impairment Hyperventilation Protruding tongue Generalized neonatal hypotonia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Muscular hypotonia of the trunk, related diseases and genetic alterations Autoimmunity and Overgrowth, related diseases and genetic alterations Hepatomegaly and Tapered finger, related diseases and genetic alterations Epicanthus and Progressive visual loss, related diseases and genetic alterations Obesity and Left ventricular hypertrophy, related diseases and genetic alterations Immunodeficiency and Cerebral cortical atrophy, related diseases and genetic alterations