Generalized hypotonia, and Facial asymmetry

Diseases related with Generalized hypotonia and Facial asymmetry

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 58; MRD58

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

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

Other less relevant matches:

Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome|question mark ears syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME

Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about STANKIEWICZ-ISIDOR SYNDROME; STISS

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Facial asymmetry

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Absent speech Abnormal facial shape Ventriculomegaly Delayed speech and language development Microcephaly Motor delay Bulbous nose Downslanted palpebral fissures High palate Hearing impairment Anteverted nares Ptosis Posteriorly rotated ears Low-set ears Hypoplasia of the corpus callosum Macrocephaly Micrognathia Epicanthus Cryptorchidism Visual impairment Dental crowding Muscular hypotonia

Rare Symptoms - Less than 30% cases

Brachycephaly Optic atrophy Hydrocephalus Myopia Pectus excavatum Myoclonus Joint hypermobility Delayed myelination Open mouth Facial hypotonia Unsteady gait Cleft palate Short stature Narrow mouth Apnea Abnormality of the pinna Bifid uvula Broad-based gait Cerebral visual impairment Nystagmus Sensorineural hearing impairment Abnormal cardiac septum morphology Poor speech Wide mouth Proptosis Autism Frontal bossing Tall stature Plagiocephaly CNS hypomyelination Deep philtrum Precocious puberty Bilateral ptosis Overlapping toe Myopathic facies Neurodevelopmental delay Cognitive impairment Gait disturbance Dysarthria Abnormal cortical gyration Talipes equinovarus Communicating hydrocephalus Cortical gyral simplification Osteoporosis Mandibular prognathia Relative macrocephaly Lissencephaly Cafe-au-lait spot Hernia Epileptic encephalopathy Edema Prominent nose Short thumb Severe hydrocephalus Macular hypoplasia Horizontal nystagmus Absent thumb Shawl scrotum Truncus arteriosus Pineal cyst Respiratory insufficiency Short nose Kyphoscoliosis Encephalopathy Prominent forehead Upslanted palpebral fissure High forehead Neonatal hypotonia Anxiety Telecanthus Broad forehead Dolichocephaly Colpocephaly Esotropia Microretrognathia Difficulty walking Atrial septal defect Hyperextensibility of the finger joints Spontaneous abortion Nasal speech Sparse eyebrow Decreased muscle mass Disproportionate tall stature Long fingers Slender finger Pulmonary hypoplasia Epileptic spasms Slender build Small earlobe Hyperpigmentation of the skin Long hallux Hepatic failure Coloboma Narrow palm Cleft lip Polyhydramnios Focal motor seizures Cerebellar hypoplasia Long palm Asymmetry of the ears Narrow face Thick lower lip vermilion Intellectual disability, moderate Microdontia Wide anterior fontanel Camptodactyly Pectus carinatum Short philtrum Prominent nasal bridge Heterotopia Synophrys Cholestasis Abnormality of movement Congenital diaphragmatic hernia Dandy-Walker malformation Abnormality of the kidney Intestinal malrotation Iris coloboma Smooth philtrum Arachnodactyly High, narrow palate Recurrent fractures Postural instability Generalized myoclonic seizures Webbed neck Wide intermamillary distance High myopia Intellectual disability, profound Stenosis of the external auditory canal Retrognathia Micromelia Growth delay Brachydactyly Short neck Blindness Long philtrum Syndactyly Delayed skeletal maturation Reduced visual acuity Postnatal growth retardation Hypermetropia Long face Left ventricular noncompaction Thin vermilion border Thick eyebrow Small hand Single transverse palmar crease Progressive visual loss Narrow forehead Fine hair Sandal gap Cutis laxa Dyschromatopsia Hyperalaninemia Neuronal loss in central nervous system Prominent glabella Febrile seizures Wide nasal bridge Macrotia Neurological speech impairment Thick vermilion border Incoordination Delayed ability to walk Immunodeficiency Autistic behavior Microtia Abnormality of the foot Failure to thrive Increased serum lactate Cataract Depressed nasal bridge Cardiomyopathy Hypertonia Midface retrusion Acidosis Deeply set eye Hypertrophic cardiomyopathy Dilated cardiomyopathy Lactic acidosis Gliosis Achromatopsia Blue cone monochromacy Micropenis Hypoplasia of first ribs Hamartoma of tongue Snoring Difficulty in tongue movements Speech articulation difficulties Overfolding of the superior helices Anterior open-bite malocclusion Hypoplastic superior helix Question mark ear Mandibular condyle hypoplasia Abnormality of the temporomandibular joint Mandibular condyle aplasia Microglossia Periauricular skin pits Aplasia/Hypoplasia of the external ear Vein of Galen aneurysmal malformation Cleft at the superior portion of the pinna Cleft helix Abnormality of the crus of the helix Postauricular skin tag Behavioral abnormality Hypospadias Patent ductus arteriosus Impaired mastication Obstructive sleep apnea Hyposegmentation of neutrophil nuclei Respiratory distress Nonprogressive visual loss Agenesis of corpus callosum Inability to walk Delayed gross motor development Tented upper lip vermilion Broad hallux Prominent metopic ridge Abnormal hair whorl Abnormality of the orbital region Deviation of the 5th finger Low-set, posteriorly rotated ears Ankylosis Protruding ear Full cheeks Round face Dental malocclusion Preauricular skin tag Abnormality of the outer ear Atresia of the external auditory canal Cupped ear Facial cleft External ear malformation Glossoptosis Periventricular gray matter heterotopia


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