Intellectual disability, and Pulmonic stenosis

Diseases related with Intellectual disability and Pulmonic stenosis

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

Top matches:

SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.

SUPRAVALVULAR AORTIC STENOSIS Is also known as supravalvar aortic stenosis, eisenberg type|svas

Related symptoms:

  • Intellectual disability
  • Abnormal facial shape
  • Edema
  • Arrhythmia
  • Pulmonic stenosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about SUPRAVALVULAR AORTIC STENOSIS

FRA12A is a folate-sensitive chromosomal fragile site prone to breakage. No consistent phenotype has been observed with FRA12A, and it can be inherited without phenotypic effect (Berg et al., 2000). However, mental retardation with or without other anomalies has been described in patients with over 40% of cells expressing FRA12A (Winnepenninckx et al., 2007).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Behavioral abnormality
  • Hyperkeratosis
  • Arthrogryposis multiplex congenita


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, FRA12A TYPE

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

Other less relevant matches:

Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991).

WATSON SYNDROME; WTSN Is also known as cafe-au-lait spots with pulmonic stenosis|pulmonic stenosis with cafe-au-lait spots

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Macrocephaly
  • Pulmonic stenosis


SOURCES: OMIM MENDELIAN

More info about WATSON SYNDROME; WTSN

Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.

WEILL-MARCHESANI SYNDROME Is also known as spherophakia-brachymorphia syndrome

Related symptoms:

  • Short stature
  • Cataract
  • Brachydactyly
  • Ventricular septal defect
  • Intellectual disability, mild


SOURCES: ORPHANET MENDELIAN

More info about WEILL-MARCHESANI SYNDROME

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

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

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

Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

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

Top 5 symptoms//phenotypes associated to Intellectual disability and Pulmonic stenosis

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Aortic valve stenosis Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Pulmonic stenosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Low-set ears

Rare Symptoms - Less than 30% cases

Macrocephaly Intellectual disability, mild Feeding difficulties Scoliosis Wide mouth Webbed neck Dolichocephaly Hypertrophic cardiomyopathy Prominent forehead Atrial septal defect Short neck Ptosis Hypertelorism Muscular hypotonia Abnormality of the cardiovascular system Abnormality of the skin Constipation Encephalopathy Intellectual disability, severe Abnormal heart valve morphology Strabismus Growth delay Cognitive impairment Abnormality of the sternum Depressed nasal bridge Thick vermilion border Tricuspid regurgitation Dysphagia Mandibular prognathia Abnormality of the skeletal system Pectus carinatum Narrow forehead Hyperpigmentation of the skin Poor suck Downslanted palpebral fissures Epicanthus Myoclonus Gastroesophageal reflux Prominent nose Hyperventilation Long face Joint hyperflexibility Mitral valve prolapse Broad forehead Short philtrum Abnormality of the pinna Delayed skeletal maturation High palate Micrognathia Protruding tongue Developmental regression Mild short stature Dental crowding Self-injurious behavior Drooling Stereotypy Broad-based gait Epileptic encephalopathy Unsteady gait Autistic behavior Atonic seizures Aciduria Global developmental delay Vomiting Infantile hypercalcemia Polyuria Hypercalcemia Hypercalciuria Nephrocalcinosis Nephrolithiasis Thick lower lip vermilion Dehydration Lethargy Abnormality of the eye Weight loss Failure to thrive Elfin facies Erythroderma Arthrogryposis multiplex congenita Hyperkeratosis Behavioral abnormality Supravalvular aortic stenosis Arterial stenosis Peripheral pulmonary artery stenosis Peripheral arterial stenosis Pulmonary artery stenosis Hydrops fetalis Edema Medullary nephrocalcinosis Hearing impairment Hypersarcosinemia Mitral regurgitation Glutaric aciduria Loss of speech Tetraparesis Abnormal pyramidal sign Cerebral atrophy Cardiomyopathy Optic atrophy Ataxia Ectopia lentis Short thumb Thickened skin High myopia Cafe-au-lait spot Limitation of joint mobility Glaucoma Visual loss Abnormality of cardiovascular system morphology Ventricular septal defect Brachydactyly Cataract Axillary freckling Lisch nodules Multiple cafe-au-lait spots Neurofibromas Relative macrocephaly Thickened helices


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