Muscular hypotonia, and Aortic valve stenosis

Diseases related with Muscular hypotonia and Aortic valve stenosis

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


Top matches:

Medium match AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA


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

Medium match SINGLETON-MERTEN SYNDROME 2; SGMRT2


Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

Medium match PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM; PMRED


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM; PMRED

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION


KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION Is also known as kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|kleefstra syndrome due to 9q subtelomeric deletion|kleefstra syndrome due to monosomy 9q34|9qstds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION

Medium match MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1


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 SINGLETON-MERTEN DYSPLASIA


Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

Medium match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

Medium match EHLERS-DANLOS SYNDROME, PROGEROID TYPE


Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

Medium match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Medium match OPITZ GBBB SYNDROME, TYPE II; GBBB2


Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental delay; and congenital heart defects.The Opitz GBBB syndrome was earlier thought to be 2 separate X-linked syndromes called the G syndrome and the BBB syndrome; both were listed in the X-linked catalog as recently as the seventh edition of MIM (1986).The Opitz GBBB syndrome is genetically heterogeneous, with both autosomal dominant and X-linked (OMIM ) forms. Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal forms. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms.

OPITZ GBBB SYNDROME, TYPE II; GBBB2 Is also known as opitz bbbg syndrome|gbbb syndrome|hypospadias-dysphagia syndrome|hypertelorism-hypospadias syndrome|opitz-g syndrome, type ii|telecanthus-hypospadias syndrome|g syndrome|opitz oculogenitolaryngeal syndrome, type ii|ogs2|opitz-frias syndrome|opitz gbbb syn

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE II; GBBB2

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Aortic valve stenosis

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Muscular hypotonia and Aortic valve stenosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Seizures Abnormal facial shape Hypertelorism Growth delay Congestive heart failure Low-set ears Abnormality of cardiovascular system morphology Ventriculomegaly Cleft palate Hearing impairment Feeding difficulties Pulmonic stenosis Cerebral cortical atrophy Smooth philtrum Abnormal cardiac septum morphology Strabismus Hypospadias Abnormal heart morphology Scoliosis Hypertension Epicanthus Midface retrusion Intellectual disability, mild Prominent nasal bridge Micrognathia Posteriorly rotated ears Abnormality of the dentition Mutism Abnormality of the skeletal system Flexion contracture Agenesis of corpus callosum Hernia

Rare Symptoms - Less than 30% cases


Hypertrophic cardiomyopathy Telecanthus Cardiomegaly Single transverse palmar crease Cardiomyopathy Bifid uvula High palate Ventricular septal defect Rocker bottom foot Respiratory insufficiency Frontal bossing Dandy-Walker malformation Coarctation of aorta Vesicoureteral reflux Cardiac arrest Conductive hearing impairment Ptosis Periodontitis Kyphoscoliosis Bilateral cryptorchidism Micropenis Alopecia Pectus excavatum Short neck Depressed nasal bridge Subvalvular aortic stenosis Wide nasal bridge Prominent forehead Skeletal dysplasia Skeletal muscle atrophy Heart block Coxa valga Cutaneous photosensitivity Broad forehead Joint laxity Thin upper lip vermilion Pectus carinatum Osteoporosis Arrhythmia Talipes equinovarus Osteopenia Triangular face Hypoplasia of the corpus callosum Microcephaly Wide mouth Depressivity Umbilical hernia Macroglossia Hyperkeratosis Bulbous nose Inguinal hernia Anteverted nares Glaucoma Muscle weakness Mitral regurgitation Facial wrinkling Phalangeal dislocation Testicular torsion Slender toe Abnormality of primary teeth Palmoplantar cutis gyrata Cataract Soft, doughy skin Large joint dislocations Prominent scalp veins Abnormality of the eye Brachydactyly Weight loss Hydrocephalus Flat forehead Ichthyosis Narrow forehead Vomiting Wide intermamillary distance Esotropia Hypopigmentation of the skin Thick vermilion border Wide nose Long face Toe syndactyly Hypertonia Low-set, posteriorly rotated ears Muscular hypotonia of the trunk Aggressive behavior Deeply set eye Polyhydramnios Polydactyly Hyperactivity Syndactyly Advanced ossification of carpal bones Forearm undergrowth Absent earlobe Sparse scalp hair Cutis laxa Sparse eyelashes Accelerated skeletal maturation Joint dislocation Elbow flexion contracture Sparse and thin eyebrow Bowing of the long bones Thin skin Fine hair Radioulnar synostosis Blue sclerae Congenital diaphragmatic hernia Nevus Lethargy Dehydration Bruising susceptibility Flat face Joint hypermobility Abnormality of skin pigmentation Hyperextensible skin Lipodystrophy Talipes equinovalgus Progeroid facial appearance Microretrognathia Ulnar bowing Dermal translucency Long toe Poor wound healing Small face Generalized osteoporosis Varicose veins Mild global developmental delay Sparse eyebrow Atypical scarring of skin Gingivitis Genu recurvatum Short clavicles Proportionate short stature Curly hair Atrophic scars Bowing of the legs Elbow dislocation Narrow palpebral fissure Anxiety Sacral dimple Anal stenosis Abnormality of the respiratory system Bilateral cleft lip and palate Diastasis recti Megalencephaly Bilateral cleft lip Hiatus hernia Tracheomalacia Prominent metopic ridge Abnormality of the ureter Widow's peak Limb dystonia Weak cry Prominent occiput Tracheoesophageal fistula Bifid scrotum Oral-pharyngeal dysphagia Stridor Abnormality of the urinary system Enlarged cisterna magna Concave nasal ridge Laryngomalacia Aplasia/Hypoplasia of the cerebellar vermis Rectourethral fistula Posterior pharyngeal cleft Rectal atresia Vascular ring Laryngeal cleft Short lingual frenulum Hypoplasia of the epiglottis Hoarse cry Cranial asymmetry Bicornuate uterus Absent gallbladder Metopic synostosis Unilateral cleft lip Inspiratory stridor Ankyloglossia Dilated fourth ventricle Cavum septum pellucidum Sagittal craniosynostosis Recurrent upper respiratory tract infections Anosmia Overfolded helix Overlapping fingers Atrial septal defect Dysphagia Downslanted palpebral fissures Olivopontocerebellar hypoplasia Hypoplastic aortic arch Spotty hypopigmentation Long neck Otosclerosis Narrow nose Patent ductus arteriosus Epiphyseal stippling Long fingers Broad hallux Ectopic kidney Overlapping toe Joint hyperflexibility 2-3 toe syndactyly Self-injurious behavior Dystonia Constipation Hoarse voice Cleft upper lip Aspiration Recurrent urinary tract infections Cerebellar vermis hypoplasia Pulmonary arterial hypertension Intestinal malrotation High, narrow palate Iris coloboma Pulmonary hypoplasia Oral cleft Rod-cone dystrophy Anal atresia Cough Coloboma Craniosynostosis Abnormality of the kidney Cleft lip Hydronephrosis Gastroesophageal reflux Arachnodactyly Pes planus Narrow chest Broad thumb Short palm Tapered finger Myopia Anemia 3-Methylglutaconic aciduria Severe lactic acidosis Severe failure to thrive Hyperammonemia Visual loss Severe muscular hypotonia Spontaneous abortion Horizontal nystagmus Renal hypoplasia Bicuspid aortic valve Oligohydramnios Aciduria Increased serum lactate Recurrent infections Recurrent respiratory infections Lactic acidosis Waddling gait Epiphora Psoriasiform dermatitis Scaling skin Osteolysis Areflexia Decreased body weight Hyporeflexia Generalized muscle weakness Pes cavus Hypoplasia of the maxilla Myoclonus Genu valgum Carious teeth Hip dislocation EEG abnormality Severe global developmental delay Abnormality of the cerebral white matter Metabolic acidosis CNS hypomyelination High anterior hairline Hypoplasia of penis Dysphasia Aphasia Flat occiput Apathy Aortic regurgitation Absence seizures Status epilepticus Tetralogy of Fallot Protruding tongue Specific learning disability Brachycephaly Sleep disturbance Highly arched eyebrow Everted lower lip vermilion Downturned corners of mouth Synophrys Autism Absent septum pellucidum Epileptic spasms Short philtrum Short nose Camptodactyly Atonic seizures Retrognathia Acidosis Hydrocele testis Subglottic stenosis Broad jaw Behavioral abnormality Hepatomegaly Echolalia Renal insufficiency Obesity Ataxia Cerebral cortical hemiatrophy Conotruncal defect Subcortical cerebral atrophy Femoral hernia Abnormality of the testis Nystagmus Osteolytic defects of the phalanges of the hand Hypermetropia Multiple cafe-au-lait spots Multiple lentigines Limited elbow movement Abnormal aortic valve morphology Abnormal mitral valve morphology Hyposmia Angina pectoris Missing ribs Severe hearing impairment Delayed menarche Bundle branch block Polyuria Unilateral renal agenesis Cubitus valgus Pterygium Spina bifida occulta Scapular winging Cafe-au-lait spot Parietal bossing Third degree atrioventricular block Depressed nasal ridge Narrow mouth Microtia Scarring Thick lower lip vermilion Abnormality of the nervous system Irritability Nephrolithiasis Proptosis Nephrocalcinosis Hypoplasia of the ovary Severe short stature Macrocephaly Hypercalciuria Hypercalcemia Motor delay Aplasia of the ovary Coronary artery aneurysm Numerous nevi Abnormality of the genital system Myocardial infarction Onycholysis Tendon rupture Pulmonary edema Expanded phalanges with widened medullary cavities Expanded metacarpals with widened medullary cavities Hypoplastic distal radial epiphyses Expanded metatarsals with widened medullary cavities Aortic arch calcification Hypoplasia of the tooth germ Dentinogenesis imperfecta limited to primary teeth Sensorineural hearing impairment Unerupted tooth Premature loss of permanent teeth Mitral valve calcification Hip subluxation Aortic valve calcification Shallow acetabular fossae Muscle fiber atrophy Calcification of the aorta Neoplasm Atopic dermatitis Overgrowth Neonatal hypotonia Webbed neck Syncope Chest pain Infantile hypercalcemia Delayed puberty Medullary nephrocalcinosis Protruding ear Elfin facies Mandibular prognathia Pain Edema Arthritis Dilatation Kyphosis Dry skin Inflammatory abnormality of the skin Fatigue Delayed speech and language development Absent pulmonary artery



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Pallor, related diseases and genetic alterations Optic atrophy and Aortic valve stenosis, related diseases and genetic alterations Brachydactyly and Leukodystrophy, related diseases and genetic alterations Scoliosis and Generalized seizures, related diseases and genetic alterations Scoliosis and Macular degeneration, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more