Generalized hypotonia, and Ventricular septal defect

Diseases related with Generalized hypotonia and Ventricular septal defect

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

Top matches:

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

TRANSKETOLASE DEFICIENCY Is also known as short stature-developmental delay-congenital heart defect syndrome|tkt deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ventricular septal defect


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSKETOLASE DEFICIENCY

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 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A

Other less relevant matches:

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Strabismus
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE HYPOTONIA-PSYCHOMOTOR DEVELOPMENTAL DELAY-STRABISMUS-CARDIAC SEPTAL DEFECT SYNDROME

Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by Peters et al., 2014).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D

Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Low-set ears
  • Brachydactyly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY; SRTD19

Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Is also known as muscular atrophy, infantile|sma type 1|sma-i|infantile spinal muscular atrophy|sma, infantile acute form|sma1|werdnig-hoffmann disease|sma i|sma type i

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.

SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME Is also known as ssm syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Ventricular septal defect

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Respiratory failure Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Ventricular septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Respiratory insufficiency Cryptorchidism Abnormal cardiac septum morphology Respiratory distress

Rare Symptoms - Less than 30% cases

Intellectual disability Skeletal muscle atrophy Decreased fetal movement Jaundice Muscular hypotonia Muscular hypotonia of the trunk Abnormality of the skeletal system Scoliosis Recurrent respiratory infections Recurrent pneumonia Abnormal heart morphology Patent ductus arteriosus Dystonia Apnea Low-set ears Microcephaly Short stature Hypoplasia of the corpus callosum Hernia Areflexia Umbilical hernia Proximal muscle weakness Joint laxity Paralysis Tetraparesis Spinal muscular atrophy Thoracic dysplasia Flexion contracture Postaxial polydactyly Polydactyly Cleft lip Dolichocephaly Narrow chest Micromelia Oral cleft Pulmonary hypoplasia Short ribs Muscle weakness Hypoplasia of the radius Relative macrocephaly Thoracic hypoplasia Prominent occiput EMG: neuropathic changes Hypoplastic ilia Lateral clavicle hook Horizontal ribs Axonal degeneration Macrocephaly Proximal amyotrophy Sloping forehead Failure to thrive Elevated hepatic transaminase Arthrogryposis multiplex congenita Ichthyosis Nephropathy Metabolic acidosis Hip dysplasia Nephrocalcinosis Hemolytic-uremic syndrome Lissencephaly Renal tubular acidosis Right ventricular hypertrophy Conjugated hyperbilirubinemia Cholestatic liver disease Nephrogenic diabetes insipidus Giant cell hepatitis Hypoplastic philtrum Overlapping toe Tongue fasciculations Diarrhea Decreased number of large peripheral myelinated nerve fibers Degeneration of anterior horn cells Proximal muscle weakness in lower limbs Hypertelorism Hypertension Midface retrusion Tremor Constipation Broad-based gait Gastroesophageal reflux Coarse facial features Proteinuria Poor speech Hematuria Intestinal malrotation Status epilepticus Hemiparesis Prominent forehead Hyperkinesis Syndactyly Neonatal hypotonia Severe global developmental delay Epiphyseal stippling Glossoptosis Generalized neonatal hypotonia Delayed speech and language development Myopathy Long face Hepatomegaly Open mouth Severe muscular hypotonia Respiratory insufficiency due to muscle weakness Increased variability in muscle fiber diameter Myopathic facies Dilation of lateral ventricles Feeding difficulties in infancy Cataract Nystagmus Coarctation of aorta Cleft palate Feeding difficulties Abnormality of the dentition Autistic behavior Hypermetropia Thin vermilion border Absent speech Truncus arteriosus Attention deficit hyperactivity disorder Stereotypy Patent foramen ovale Self-injurious behavior Obsessive-compulsive behavior Proportionate short stature Uveitis Hearing impairment Spasticity Long philtrum Athetosis Asthma Chorea Choreoathetosis Abnormal lung morphology Infantile muscular hypotonia Neonatal respiratory distress Interstitial pulmonary abnormality Abnormality of movement Abnormality of the thyroid gland Congenital hypothyroidism Parkinsonism with favorable response to dopaminergic medication Increased thyroid-stimulating hormone level Compensated hypothyroidism Thyroid dysgenesis Brachydactyly Sleep disturbance Respiratory tract infection Cardiomyopathy Vertical nystagmus Abnormality of the eye Abnormality of eye movement Neurodegeneration Increased serum lactate Poor suck Increased CSF lactate Decreased activity of the pyruvate dehydrogenase complex Difficulty walking Ataxia Motor delay Dysarthria Fever Pneumonia Gait ataxia Hypothyroidism Talipes calcaneovalgus


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