Depressed nasal bridge, and Neurological speech impairment

Diseases related with Depressed nasal bridge and Neurological speech impairment

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27; MRT27


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27; MRT27

Medium match JOUBERT SYNDROME 32; JBTS32


JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF


Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

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Other less relevant matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38


MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

Medium match MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE


Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.

MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism|alazami syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE

Medium match SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME


Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

Medium match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

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 FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3


HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Neurological speech impairment

Symptoms // Phenotype % cases
Global developmental delay 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
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Absent speech Epicanthus Hypertelorism Poor speech Microcephaly Aggressive behavior Downslanted palpebral fissures Intellectual disability, severe Low-set ears Hyperactivity Wide mouth Strabismus Deeply set eye Neonatal hypotonia Smooth philtrum Thin upper lip vermilion Downturned corners of mouth

Rare Symptoms - Less than 30% cases


Sensorineural hearing impairment Dysarthria Delayed speech and language development Generalized tonic-clonic seizures Micrognathia Short nose Focal-onset seizure Triangular face Midface retrusion Polydactyly Anxiety Hearing impairment Postaxial polydactyly Wide nasal bridge Narrow palpebral fissure Upslanted palpebral fissure Short philtrum Hypermetropia High palate Ventriculomegaly Self-mutilation Long palpebral fissure Fair hair Proximal renal tubular acidosis Cognitive impairment Tics Long toe Cleft palate Renal tubular acidosis Metabolic acidosis Inappropriate laughter Acidosis Intrauterine growth retardation Cryptorchidism Synophrys Cerebral cortical atrophy Hypoplasia of the corpus callosum Ptosis Esophoria High-frequency hearing impairment Facial paralysis Facial diplegia High hypermetropia Esotropia Paralysis Facial palsy Posteriorly rotated ears Anteverted nares Dysphagia Feeding difficulties Limb hypertonia Hypertonia Hemiparesis Status epilepticus Epileptic encephalopathy Febrile seizures Delayed myelination Chorea Inability to walk Developmental regression Macrotia Language impairment Cerebellar hypoplasia Encephalopathy Dystonia Long fingers Failure to thrive Fine hair Tall stature Obsessive-compulsive behavior Nephrocalcinosis Generalized-onset seizure Highly arched eyebrow Thin vermilion border Intellectual disability, moderate Elongated superior cerebellar peduncle Molar tooth sign on MRI Large for gestational age Oculomotor apraxia Cerebellar vermis hypoplasia Hyperparathyroidism Apraxia Abnormal cerebellum morphology Polymicrogyria Intellectual disability, mild Frontal bossing Macrocephaly Nystagmus Ataxia Hyperreflexia Growth delay Unilateral renal agenesis Obsessive-compulsive trait Broad nasal tip Wide nose Astigmatism Broad forehead Blepharophimosis Sparse hair Motor delay Pain Widely spaced teeth Decreased body weight Broad-based gait Thick vermilion border Prominent forehead Long philtrum Severe short stature Malar flattening Scoliosis Short stature Tented upper lip vermilion Everted lower lip vermilion Cerebral atrophy Sandal gap Pointed chin Clinodactyly Obesity Accommodative esotropia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Flat face, related diseases and genetic alterations Microphthalmia and Apraxia, related diseases and genetic alterations Fever and Palmoplantar keratoderma, related diseases and genetic alterations Brachydactyly and Rheumatoid arthritis, related diseases and genetic alterations Sensorineural hearing impairment and Nephropathy, related diseases and genetic alterations Neoplasm and Aortic valve stenosis, related diseases and genetic alterations Hydrocephalus and Hypopigmentation of the skin, related diseases and genetic alterations

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