Depressed nasal bridge, and Hypertonia

Diseases related with Depressed nasal bridge and Hypertonia

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Hypertonia that can help you solving undiagnosed cases.

Top matches:

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

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

Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.

OTOFACIOCERVICAL SYNDROME Is also known as fara-chlupackova syndrome|ofc1|ofc syndrome|ofc

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about OTOFACIOCERVICAL SYNDROME

Other less relevant matches:

NEDMAGA is a neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

Skraban-Deardorff syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip (summary by Skraban et al., 2017).

INTELLECTUAL DISABILITY-SEIZURES-ABNORMAL GAIT-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability with seizures, abnormal gait, and distinctive facial features|skraban-deardorff syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SEIZURES-ABNORMAL GAIT-FACIAL DYSMORPHISM SYNDROME

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.

HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1 Is also known as hepatoencephalopathy, early fatal progressive|hepatoencephalopathy due to coxpd1

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1

NMIHBA is a severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination (summary by Zollo et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Hypertonia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Depressed nasal bridge and Hypertonia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Micrognathia Low-set ears Absent speech Hypoplasia of the corpus callosum Protruding ear Muscular hypotonia of the trunk Delayed speech and language development Abnormal facial shape Anteverted nares Motor delay Macrotia Facial asymmetry Dystonia Widely spaced teeth Prominent forehead Epicanthus Downturned corners of mouth Delayed myelination Short nose Hyperreflexia High palate Failure to thrive Cerebral cortical atrophy

Rare Symptoms - Less than 30% cases

Short palpebral fissure Spastic tetraparesis Tetraparesis Abnormality of the skeletal system Neurological speech impairment Happy demeanor Broad nasal tip Full cheeks Wide nose Retrognathia Constipation Short stature Hydrocephalus Growth delay Cryptorchidism Cleft palate Macrocephaly Progressive microcephaly Hypertelorism Highly arched eyebrow Thin upper lip vermilion Plagiocephaly Microretrognathia Small hand Wide mouth Ventriculomegaly Deeply set eye Acidosis Encephalopathy Lactic acidosis Cerebellar hypoplasia Telecanthus Smooth philtrum Proptosis Midface retrusion Chorea Cardiomyopathy Cataract Broad-based gait Increased serum lactate Agenesis of corpus callosum Abnormality of the pinna Long philtrum Intellectual disability, severe Lambdoidal craniosynostosis Short philtrum Craniofacial dysostosis Coarse facial features Ectopic posterior pituitary Prominent scalp veins Hyperplasia of the maxilla Otitis media Thick upper lip vermilion Round ear Delayed ability to walk Spastic gait Amblyopia Diminished ability to concentrate Pachygyria Recurrent otitis media Pansynostosis Posterior plagiocephaly Strabismus Sparse lateral eyebrow Metabolic acidosis Small for gestational age Abnormality of the cerebral white matter Scoliosis Flexion contracture Skeletal muscle atrophy Optic atrophy Talipes equinovarus Blindness Cerebellar atrophy Cerebral atrophy High forehead Narrow chest Fulminant hepatic failure Talipes Sloping forehead Narrow forehead Hypsarrhythmia Cerebral visual impairment Clonus Narrow palate Multiple joint contractures Hypoventilation Central hypotonia Basal ganglia cysts Increased CSF lactate Thin vermilion border Nystagmus Bifid uvula Round face Wide intermamillary distance Absence seizures Long nose Partial agenesis of the corpus callosum Prominent metopic ridge Bruxism Prominent nasal tip Long upper lip Hepatomegaly Progressive encephalopathy Intrauterine growth retardation Respiratory insufficiency Vomiting Stomatocytosis Bradykinesia Cholestasis Decreased liver function Global brain atrophy Hypokinesia Poor eye contact Dimple chin Microphthalmia Anterior plagiocephaly Abnormal dermatoglyphics Delayed skeletal maturation Conductive hearing impairment Facial palsy Long face Preauricular skin tag Scapular winging Renal hypoplasia/aplasia Short neck Atresia of the external auditory canal Preauricular pit Narrow nose Abnormality of the clavicle Abnormality of the antihelix Down-sloping shoulders Lacrimal duct stenosis Intellectual disability, mild Hearing impairment Unilateral facial palsy Cognitive impairment Hypertrophic cardiomyopathy Dilated cardiomyopathy Bulbous nose Gliosis Neuronal loss in central nervous system Left ventricular noncompaction Hyperalaninemia Developmental regression Limb hypertonia Generalized tonic-clonic seizures Inability to walk Focal-onset seizure Febrile seizures Epileptic encephalopathy Status epilepticus Hemiparesis Long neck Cholesteatoma Arnold-Chiari type I malformation Muscular hypotonia Severe global developmental delay Pulmonary hypoplasia Congenital diaphragmatic hernia Short chin Anophthalmia Bicornuate uterus Hypoplastic left atrium Frontal bossing Brachycephaly Malar flattening Craniosynostosis Blepharophimosis Increased intracranial pressure Optic nerve hypoplasia Flat occiput External ear malformation Sparse hair Hernia Pain Everted lower lip vermilion Peripheral neuropathy Hyporeflexia Hyperactivity Autism Gastroesophageal reflux Unsteady gait Thick eyebrow Esotropia Ventricular septal defect Open mouth Stereotypy Prominent supraorbital ridges Progressive spasticity Tics Broad columella Wide nasal bridge Central hypoventilation


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