Generalized hypotonia, and Micrognathia

Diseases related with Generalized hypotonia and Micrognathia

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

Top matches:

SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME Is also known as slc35a3-cdg

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME

Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Cleft palate
  • Flexion contracture
  • Areflexia


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

Other less relevant matches:

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014).For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Flexion contracture
  • High palate
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 5; CNM5

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by Sine et al., 2003 and Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Ptosis
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL; CMS3B

Early infantile epileptic encephalopathy-64 is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64

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 K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Micrognathia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A

CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease|classic mmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC MULTIMINICORE MYOPATHY

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

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

High palate Macrotia

Rare Symptoms - Less than 30% cases

Intellectual disability Cataract Short stature Abnormal facial shape Cerebellar hypoplasia Polymicrogyria Neonatal hypotonia Respiratory insufficiency Cardiomyopathy Decreased fetal movement Facial palsy Dilated cardiomyopathy Ophthalmoplegia Axial muscle weakness Depressed nasal bridge Hypertonia Congenital contracture Failure to thrive Areflexia Microretrognathia Hip dysplasia Arthrogryposis multiplex congenita Scoliosis Paralysis Chorea Delayed myelination Focal-onset seizure Febrile seizures Epileptic encephalopathy Hemiparesis Status epilepticus Smooth philtrum Limb hypertonia Hepatomegaly Wide nasal bridge High forehead Jaundice Inability to walk Developmental regression Generalized tonic-clonic seizures Cognitive impairment Dysphagia Respiratory distress Progressive muscle weakness Easy fatigability Weak cry Neck muscle weakness Type 2 muscle fiber atrophy Epicanthus Muscular hypotonia of the trunk Ventriculomegaly Hypoplasia of the corpus callosum Dystonia Absent speech Encephalopathy Cerebral cortical atrophy Thin upper lip vermilion Abnormality of the nervous system Dolichocephaly Abnormality of the eye Right ventricular hypertrophy Poor head control Congenital muscular dystrophy Multiple joint contractures High pitched voice Generalized amyotrophy Spinal rigidity Restrictive deficit on pulmonary function testing Mitral valve prolapse Muscle fiber atrophy Right ventricular failure Nocturnal hypoventilation Increased muscle lipid content Limited neck flexion Weakness of facial musculature Intermittent episodes of respiratory insufficiency due to muscle weakness Delayed gross motor development Pes planus Muscle weakness Flat occiput Triangular face Aciduria Cyanosis Cholestasis Heterotopia Large fontanelles Hyperbilirubinemia Abnormality of neuronal migration Mandibular prognathia Central hypotonia Posterior embryotoxon Delayed closure of the anterior fontanelle Dicarboxylic aciduria Neonatal hyperbilirubinemia Abnormality of the nasal bridge Congestive heart failure Ptosis Increased serum lactate Hyperalaninemia Cleft palate Albinism Premature graying of hair Shallow orbits Osteopetrosis Blue irides Generalized hypopigmentation Hypertelorism Congenital sensorineural hearing impairment Atypical absence seizures Spasticity Knee dislocation Delayed speech and language development Visual impairment Cerebral atrophy Hammertoe Preauricular pit Microcornea Arachnodactyly Fetal akinesia sequence Pterygium Polyhydramnios Oral-pharyngeal dysphagia Akinesia Distal arthrogryposis Facial diplegia Hearing impairment Congenital cataract Sensorineural hearing impairment Macrocephaly Frontal bossing Microphthalmia Posteriorly rotated ears Telecanthus Coloboma Proteinuria Stage 5 chronic kidney disease Left ventricular noncompaction Deeply set eye Intellectual disability, mild Intellectual disability, severe Muscular hypotonia Anteverted nares Midface retrusion Acidosis Hypertrophic cardiomyopathy Centrally nucleated skeletal muscle fibers Wide mouth Facial asymmetry Lactic acidosis Bulbous nose Gliosis Knee flexion contracture Neuronal loss in central nervous system Hip contracture Severe muscular hypotonia Absence seizures Hip dislocation Tapered finger Nephrotic syndrome Glomerulosclerosis Focal segmental glomerulosclerosis Diffuse mesangial sclerosis Motor delay Myopathy Bifid uvula Elevated serum creatine phosphokinase Narrow mouth Retrognathia Camptodactyly of finger Autistic behavior Intellectual disability, moderate Autism Absent muscle fiber merosin


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