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:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO OMIM UMLS

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27; MRT27

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Related symptoms:

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


SOURCES: DOID MONDO UMLS OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

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
  • Hypertelorism
  • Ataxia


SOURCES: DOID MONDO UMLS OMIM

More info about JOUBERT SYNDROME 32; JBTS32

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Other less relevant matches:

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:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: DOID UMLS MONDO OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

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:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM UMLS MONDO

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Medium match ALAZAMI SYNDROME; ALAZS

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.

ALAZAMI SYNDROME; ALAZS Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism;alazami syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET UMLS MONDO OMIM

More info about ALAZAMI SYNDROME; ALAZS

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18

Autosomal dominant mental retardation-18 is characterized by severe intellectual disability, limited language development, motor delay, and dysmorphic features, including hypertelorism and narrow palpebral fissures (summary by Luo et al., 2017).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18 Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus


SOURCES: MONDO GARD DOID OMIM ORPHANET UMLS

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 18; MRD18

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

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Pica
  • Hearing impairment


SOURCES: OMIM DOID MONDO UMLS

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

Medium match STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME; SDSX

gene, localised to the Xp11.2 region.

STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME; SDSX Is also known as mental retardation, x-linked, stocco dos santos type;

Related symptoms:

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


SOURCES: UMLS GARD OMIM ORPHANET MESH MONDO SCTID

More info about STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME; SDSX

Medium match OTOFACIOCERVICAL SYNDROME 1; OTFCS

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 1; OTFCS Is also known as ofc;ofc1;fara-chlupackova syndrome; ofc syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MONDO ORPHANET OMIM UMLS

More info about OTOFACIOCERVICAL SYNDROME 1; OTFCS

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 Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Absent speech Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% 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


Autosomal recessive inheritance Intellectual disability, severe Epicanthus Poor speech Abnormal facial shape Aggressive behavior Microcephaly Generalized hypotonia Wide mouth Autosomal dominant inheritance Hyperactivity Strabismus Downslanted palpebral fissures Infantile onset Neonatal hypotonia Short stature Deeply set eye

Rare Symptoms - Less than 30% cases


Thin upper lip vermilion Triangular face Anxiety Pain Scoliosis Wide nasal bridge Hearing impairment Polydactyly Short philtrum Postaxial polydactyly Low-set ears Pica Upslanted palpebral fissure Downturned corners of mouth Hyperreflexia Renal hypoplasia/aplasia X-linked inheritance Gastroesophageal reflux Down-sloping shoulders Auricular pit Kyphosis Lacrimal duct stenosis Talipes equinovarus Auricular tag Proximal renal tubular acidosis Metabolic acidosis Renal tubular acidosis Short foot Synophrys Acidosis Intrauterine growth retardation Long neck Cryptorchidism Cleft palate Sensorineural hearing impairment Unilateral facial palsy Inappropriate laughter Long toe Fair hair Hip dislocation Small hand Hirsutism Atresia of the external auditory canal Abnormal dermatoglyphics Full cheeks Long face Facial asymmetry Protruding ear Facial palsy Conductive hearing impairment Macrotia Scapular winging Long fingers Preauricular pit Preauricular skin tag Abnormal renal morphology Delayed skeletal maturation Abnormality of the clavicle Abnormality of the antihelix Intellectual disability, mild Hypertonia Anteverted nares Narrow nose Short neck High palate Bruxism Intellectual disability, profound Long palpebral fissure Severe short stature Language impairment Macrocephaly Elongated superior cerebellar peduncle Large for gestational age Molar tooth sign on MRI Oculomotor apraxia Tall stature Cerebellar vermis hypoplasia Apraxia Abnormal cerebellum morphology Polymicrogyria Oxycephaly Frontal bossing Dysarthria Everted lower lip vermilion Nystagmus Ataxia Sandal gap Pointed chin Clinodactyly Obesity Long philtrum Short nose Delayed speech and language development Midface retrusion Growth delay Cerebral atrophy Tented upper lip vermilion Narrow palpebral fissure Wide nose Broad nasal tip Astigmatism Hypermetropia Broad forehead Sparse hair Blepharophimosis Tics Motor delay Widely spaced teeth Decreased body weight Thick vermilion border Prominent forehead Intellectual disability, moderate Malar flattening Failure to thrive Obsessive-compulsive trait Hyperparathyroidism Unilateral renal agenesis Calcinosis Nephrocalcinosis Generalized seizures Focal seizures Highly arched eyebrow Thin vermilion border Smooth philtrum Cholesteatoma



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