Depressed nasal bridge, and Dystonia

Diseases related with Depressed nasal bridge and Dystonia

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


Top matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64


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

Medium match DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Medium match MICROPHTHALMIA, SYNDROMIC 12; MCOPS12


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

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Other less relevant matches:

Medium match NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


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

Medium match JABERI-ELAHI SYNDROME; JABELS


JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Medium match PONTOCEREBELLAR HYPOPLASIA TYPE 7


Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

Medium match PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY


Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

Medium match PSEUDOHYPOPARATHYROIDISM TYPE 1B


Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

PSEUDOHYPOPARATHYROIDISM TYPE 1B Is also known as php ib

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1B

Medium match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE


Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Epicanthus

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Hypoplasia of the corpus callosum

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Spasticity Absent speech Micrognathia Nystagmus Delayed myelination Cryptorchidism Delayed speech and language development Low-set ears Abnormality of the cerebral white matter Irritability Microphthalmia Short nose Cleft palate Abnormality of the dentition High palate Cataract Muscular hypotonia of the trunk Hypertelorism Chorea Failure to thrive Intellectual disability, severe Ventriculomegaly Hypertonia Hyperreflexia Cerebellar hypoplasia Bulbous nose Macrotia Thin upper lip vermilion Optic atrophy Wide nasal bridge

Rare Symptoms - Less than 30% cases


Generalized-onset seizure Visual impairment Strabismus Prominent forehead Cerebral atrophy Talipes Short palpebral fissure Ptosis Talipes equinovarus Osteopenia EEG abnormality Deeply set eye Telecanthus Dyskinesia Hyporeflexia Sparse eyebrow Short stature Growth delay Motor delay Agenesis of corpus callosum Protruding ear Myopia Neurological speech impairment Round face Wide nose Widely spaced teeth Severe global developmental delay Hearing impairment Long philtrum Muscular hypotonia Sparse hair Inability to walk Anteverted nares Myoclonus Developmental regression Smooth philtrum Encephalopathy Brachycephaly Cognitive impairment Frontal bossing Sensorineural hearing impairment Paresthesia Short neck Muscle cramps Babinski sign Renal insufficiency Delayed eruption of teeth Abnormality of metabolism/homeostasis Blindness Anxiety Respiratory insufficiency Depressivity Gait disturbance Hepatomegaly Dyspnea Obesity Dysphagia Diffuse hepatic steatosis Brachydactyly Peripheral demyelination Spastic tetraplegia Intellectual disability, progressive Abnormal electroretinogram Hand polydactyly Inverted nipples Abnormality of visual evoked potentials Bilateral sensorineural hearing impairment Decreased light- and dark-adapted electroretinogram amplitude CNS demyelination Full cheeks Brain atrophy Leukodystrophy Tapetoretinal degeneration Tetraplegia Hypodontia Retinal degeneration Retinopathy Neonatal hypotonia Elevated hepatic transaminase Abnormality of nervous system morphology No social interaction Respiratory failure Polydactyly Pigmentary retinopathy Hypocalcemic tetany Chest pain Recurrent otitis media Abnormal heart morphology Posteriorly rotated ears Narrow mouth Hypothyroidism Proteinuria Joint laxity Postnatal growth retardation Blepharophimosis Microtia Dilated cardiomyopathy Microdontia Amblyopia Atrial septal defect Macular degeneration Torticollis Abnormality of the outer ear Scrotal hypoplasia Heart murmur Prominent occiput Congenital hypothyroidism Hypoplasia of teeth Patellar hypoplasia Epicanthus inversus Abnormal palmar dermatoglyphics Neonatal asphyxia Intellectual disability, mild Cardiomyopathy Short metacarpal Autoimmune antibody positivity Growth hormone deficiency Hypoplasia of dental enamel Increased bone mineral density Hypocalcemia Conjunctivitis Reduced bone mineral density Prolonged QT interval Hyperparathyroidism Hyperphosphatemia Calcinosis Elevated circulating parathyroid hormone level Tetany Intrauterine growth retardation Laryngeal dystonia Pseudohypoparathyroidism Ectopic calcification Hypocalcemic seizures Myoclonic spasms Microphallus Diaphyseal sclerosis Abdominal symptom Low urinary cyclic AMP response to PTH administration Pituitary resistance to thyroid hormone Increased bone density with cystic changes Cortical subperiosteal resorption of humeral metaphyses Olivopontocerebellar hypoplasia Joint stiffness Sex reversal Wide mouth Congenital diaphragmatic hernia Tetraparesis Short chin Spastic tetraparesis Anophthalmia Bicornuate uterus Hypoplastic left atrium Macrocephaly Midface retrusion Autistic behavior Thick eyebrow Pulmonary hypoplasia High, narrow palate Thick lower lip vermilion Cerebral visual impairment Self-injurious behavior Delayed ability to walk Nasogastric tube feeding Recurrent hand flapping Abnormality of the pinna Short philtrum Small for gestational age Broad nasal tip Retrognathia Downturned corners of mouth High forehead Cerebral cortical atrophy Generalized tonic-clonic seizures Focal-onset seizure Febrile seizures Epileptic encephalopathy Status epilepticus Hemiparesis Limb hypertonia Downslanted palpebral fissures Acidosis Lactic acidosis Hernia Hepatic failure Metabolic acidosis Underdeveloped nasal alae Aciduria Postnatal microcephaly Infantile muscular hypotonia Tented upper lip vermilion Adducted thumb Ventricular septal defect Hydrocephalus Thin vermilion border Highly arched eyebrow Thick upper lip vermilion Esotropia Brittle hair Hand clenching Muscle weakness Hypogonadism Upslanted palpebral fissure Micropenis Apnea Spastic paraplegia Gliosis Nevus Ambiguous genitalia Abnormal autonomic nervous system physiology Progressive microcephaly Fasciculations Hypergonadotropic hypogonadism Oculomotor apraxia Prominent supraorbital ridges Clitoral hypertrophy Hypoplasia of the brainstem Flat occiput Nevus flammeus Hypoplasia of the pons Sparse eyelashes Broad-based gait Bifid uvula Ataxia Wide intermamillary distance Absence seizures Microretrognathia Long nose Partial agenesis of the corpus callosum Prominent metopic ridge Bruxism Prominent nasal tip Long upper lip Scoliosis Tremor Choreoathetosis Cerebellar atrophy Kyphosis Gait ataxia Kyphoscoliosis Distal muscle weakness Pectus carinatum Dysmetria Joint hypermobility Dandy-Walker malformation Narrow forehead Fine hair Multiple bladder diverticula



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