Generalized hypotonia, and Oligohydramnios

Diseases related with Generalized hypotonia and Oligohydramnios

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

Top matches:

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 34; MRD34

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

Other less relevant matches:

Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES; NEDBLLA

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome ({600373}; Royer-Bertrand et al., 2015).

EVEN-PLUS SYNDROME Is also known as epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EVEN-PLUS SYNDROME

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Oligohydramnios

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Intrauterine growth retardation High palate Feeding difficulties Hypertelorism Abnormal facial shape Anteverted nares Inguinal hernia Low-set ears Anemia Renal hypoplasia Hernia Flexion contracture Respiratory distress Muscle weakness Motor delay Hearing impairment Postnatal growth retardation

Rare Symptoms - Less than 30% cases

Autistic behavior Patent foramen ovale Microtia Neuronal loss in central nervous system Jaundice Abnormality of the nervous system Autism Abnormal cardiac septum morphology Intention tremor Respiratory failure Areflexia Cutis laxa Spina bifida Abnormal pyramidal sign Prominent forehead Vesicoureteral reflux Dysphagia Recurrent urinary tract infections Strabismus Spasticity Hyperreflexia Tremor Gait disturbance Scoliosis Dystonia Splenomegaly Deep philtrum Cerebral atrophy Recurrent infections Congestive heart failure Cardiomyopathy Skeletal muscle atrophy Hypertension Renal dysplasia Progressive muscle weakness Respiratory insufficiency Pulmonary hypoplasia Osteopenia Neonatal hypotonia Epicanthus Abnormality of the pinna Generalized tonic-clonic seizures Synophrys Dilatation Joint laxity Depressed nasal bridge Peripheral neuropathy Visual impairment Hypoplastic helices Ascites Cirrhosis Short stature Atrial septal defect Uterus didelphys Severe short stature Urethral valve Ectopic kidney Bifid ureter Delayed skeletal maturation Agenesis of corpus callosum Thickened helices Decreased numbers of nephrons Anteverted ears Poor eye contact Midface retrusion Short neck Chronic kidney disease Hyperechogenic kidneys Short nose Abnormality of the dentition Aortic root aneurysm Long face Abnormality of the urinary system Pulmonary artery dilatation Soft skin Abnormality of the vasculature Aortic aneurysm Arterial stenosis Pulmonary insufficiency Narrow naris Biventricular hypertrophy Arterial tortuosity Intussusception Multiple joint dislocation Prominence of the premaxilla Pulmonary artery aneurysm Generalized arterial tortuosity Cryptorchidism Spina bifida occulta Delayed speech and language development Wide nasal bridge Hypoplasia of the corpus callosum Renal insufficiency Thin upper lip vermilion Narrow palpebral fissure Abnormality of the kidney Poor speech Stage 5 chronic kidney disease Emphysema Renal agenesis Ambiguous genitalia Narrow face Horseshoe kidney Micropenis Dysplastic corpus callosum Brachycephaly Progressive neurologic deterioration Neurofibrillary tangles Prolonged neonatal jaundice Athetosis Dysphonia Schizophrenia Clumsiness Psychosis Trismus Intellectual disability, profound Spastic tetraplegia Mitral valve prolapse Chorea Tetraplegia Sleep disturbance Neurodegeneration Loss of speech Head tremor Retinal degeneration Rapid neurologic deterioration Low cholesterol esterification rates Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Sea-blue histiocytosis Congenital thrombocytopenia Fetal ascites Bone-marrow foam cells Supranuclear gaze palsy Supranuclear ophthalmoplegia Cataplexy Vertical supranuclear gaze palsy Visceromegaly Foam cells Aplasia/Hypoplasia of the abdominal wall musculature Spastic dysarthria Bruising susceptibility Abnormality of movement High forehead Epiphyseal dysplasia Bifid nasal tip Atopic dermatitis Hypoplasia of the odontoid process Aplasia cutis congenita Metaphyseal dysplasia Overlapping toe Abnormality of the outer ear Anotia Inflammatory abnormality of the skin Depressed nasal ridge Hypodontia Highly arched eyebrow Flat face Anal atresia Sparse hair Coronal cleft vertebrae Vertebral clefting Ophthalmoplegia Myoclonus Abnormality of the cerebral white matter Neurological speech impairment Skin rash Paralysis Developmental regression Mental deterioration Hepatosplenomegaly Dementia Dysplasia of the femoral head Pneumonia Thrombocytopenia Behavioral abnormality Dysarthria Hepatomegaly Cognitive impairment Ataxia Joint dislocation Triangular face Bradycardia Hyporeflexia Congenital contracture Spinal muscular atrophy Neonatal respiratory distress Increased variability in muscle fiber diameter Generalized amyotrophy Axonal loss Secundum atrial septal defect Muscle fiber atrophy Diaphragmatic eventration Fractures of the long bones Multiple prenatal fractures Fatigue Myopathy Kyphosis Babinski sign Microretrognathia Optic disc pallor Abnormality of immune system physiology Macrocytic anemia Cholelithiasis Decreased nerve conduction velocity Respiratory insufficiency due to muscle weakness Involuntary movements Dyskinesia Recurrent respiratory infections Hemolytic anemia Unsteady gait Limb muscle weakness Pallor Respiratory tract infection Hypertrophic cardiomyopathy Severe muscular hypotonia Hypohidrosis Normocytic anemia Broad-based gait Pain Small for gestational age Polyneuropathy Peripheral demyelination Elevated serum creatinine Abnormal renal corticomedullary differentiation Ptosis Syndactyly Upslanted palpebral fissure Muscular hypotonia of the trunk Toe syndactyly Smooth philtrum Short foot Wide intermamillary distance Postnatal microcephaly Decreased fetal movement Curly hair Premature birth Peripheral axonal neuropathy Arthrogryposis multiplex congenita Narrow mouth Patent ductus arteriosus Bruxism Myopathic facies Stereotypy 2-3 toe syndactyly Bilateral ptosis Coarse hair Drooling Widely spaced teeth Cerebral visual impairment Diaphragmatic paralysis Cholecystitis Congenital diaphragmatic hernia Spinal canal stenosis Protruding ear Broad forehead Corneal opacity Hip dislocation Congenital cataract Thin skin Wormian bones Spontaneous abortion Aortic regurgitation Adducted thumb Unilateral renal agenesis Brisk reflexes Delayed cranial suture closure Reduced subcutaneous adipose tissue Premature skin wrinkling Frontal bossing Scarring Overgrowth Convex nasal ridge Recurrent fractures Bulbous nose Joint hypermobility Arachnodactyly Proptosis Calcaneovalgus deformity Pectus excavatum Long philtrum Downslanted palpebral fissures Micrognathia Small foramen magnum Dermal translucency Talipes equinovarus Macrocephaly Nonspherocytic hemolytic anemia Abnormality of eye movement Normochromic anemia Abnormal posturing Chronic hemolytic anemia Congenital hemolytic anemia Central nervous system degeneration Failure to thrive Vomiting Gastroesophageal reflux Hypoglycemia Deeply set eye Elevated hepatic transaminase Abnormality of the eye Abnormality of the liver Cough Hepatic steatosis Cataract Rickets Small scrotum Vitamin A deficiency Anasarca Vitamin D deficiency Bile duct proliferation Interstitial pulmonary abnormality Portal hypertension Pancytopenia Hypoalbuminemia Tachypnea Hypocalcemia Decreased liver function Abnormal lung morphology Cholestasis Fatal liver failure in infancy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Ectodermal dysplasia, related diseases and genetic alterations Wide nasal bridge and Nail dysplasia, related diseases and genetic alterations Low-set ears and Craniosynostosis, related diseases and genetic alterations Immunodeficiency and Acute myeloid leukemia, related diseases and genetic alterations Strabismus and Developmental regression, related diseases and genetic alterations