Neoplasm, and Prominent nasal bridge

Diseases related with Neoplasm and Prominent nasal bridge

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


Top matches:

Low match MENTAL RETARDATION, X-LINKED 45; MRX45


Related symptoms:

  • Intellectual disability
  • Short stature
  • High palate
  • Clinodactyly
  • Macrotia


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 45; MRX45

Low match FRAXE INTELLECTUAL DISABILITY


FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.

FRAXE INTELLECTUAL DISABILITY Is also known as fraxe mental retardation syndrome|intellectual disability associated with fragile site fraxe

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRAXE INTELLECTUAL DISABILITY

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14


Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

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Other less relevant matches:

Low match OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME


Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.

OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME Is also known as bbsoas|bosch-boonstra-schaaf optic atrophy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME

Low match DEAFNESS-INFERTILITY SYNDROME


Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

Low match WAARDENBURG-SHAH SYNDROME


Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).

WAARDENBURG-SHAH SYNDROME Is also known as shah-waardenburg syndrome|waardenburg-hirschsprung syndrome|ws4|waardenburg syndrome type 4

Related symptoms:

  • Hearing impairment
  • Wide nasal bridge
  • Constipation
  • Abdominal pain
  • Telecanthus


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG-SHAH SYNDROME

Low match AICA-RIBOSIDURIA


AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.

AICA-RIBOSIDURIA Is also known as aica-ribosuria due to atic deficiency|5-amino-4-imidazole carboxamide ribosiduria|atic deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AICA-RIBOSIDURIA

Low match EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME


Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region.

EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Visual impairment
  • Wide nasal bridge
  • Anteverted nares


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

Low match LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE


Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.

LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE Is also known as norman-roberts syndrome|lissencephaly syndrome, norman-roberts type|microlissencephaly type a

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE

Top 5 symptoms//phenotypes associated to Neoplasm and Prominent nasal bridge

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Anteverted nares Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Neoplasm and Prominent nasal bridge. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


High palate Short stature Synophrys

Rare Symptoms - Less than 30% cases


Prominent forehead Telecanthus Nystagmus Hypoplasia of the corpus callosum Visual impairment Optic atrophy Low-set ears Intellectual disability, profound Cerebral visual impairment Hearing impairment Frontal bossing Blindness Atrial septal defect Growth delay Wide mouth Epileptic encephalopathy Intellectual disability, severe Wide nasal bridge Thick vermilion border Delayed speech and language development Intellectual disability, mild Epicanthus Microcephaly Obsessive-compulsive behavior Protruding ear Abnormality of metabolism/homeostasis Abnormality of the pinna Abnormal macular morphology White eyebrow Cerebellar hypoplasia Olfactory lobe agenesis Muscular hypotonia White forelock Colpocephaly Brachycephaly White eyelashes Hypopigmentation of hair Abnormality of the nose Abnormal eyebrow morphology Premature graying of hair Cavum septum pellucidum Intestinal obstruction Abnormality of vision Abnormal intestine morphology Abnormality of retinal pigmentation Aganglionic megacolon Type I lissencephaly Underdeveloped nasal alae Thick cerebral cortex Abnormality of the eye Thin upper lip vermilion Severe postnatal growth retardation Abnormality of the skin Broad nasal tip Agenesis of corpus callosum Postnatal growth retardation Cerebellar atrophy Myopia Hyperreflexia Hypertelorism Periorbital fullness Hypoplasia of the pons Low anterior hairline Long eyelashes Hypsarrhythmia Narrow forehead Thick eyebrow Hypertonia Poor speech Generalized-onset seizure Short philtrum Sloping forehead Pachygyria Absent speech Lymphedema Lissencephaly Prominent occiput Fused labia minora Congenital blindness Clitoral hypertrophy Abnormality of the cerebral white matter Moderate hearing impairment Abdominal pain Macrocephaly Abnormality of the sternum Nasal speech Growth abnormality Narrow face Hypoplasia of the maxilla Long face Arachnodactyly Narrow chest Pectus carinatum Mandibular prognathia Pectus excavatum Kyphosis Scoliosis Long foot Impaired social interactions Agitation Impulsivity Attention deficit hyperactivity disorder Autistic behavior Intellectual disability, moderate Aggressive behavior Hyperactivity Behavioral abnormality Large hands Pes planus Macrotia Clinodactyly Abnormality of the musculature Slender build Constipation Male infertility Thin eyebrow Febrile seizures Deeply set eye Gastroesophageal reflux Encephalopathy Cerebral atrophy Feeding difficulties Prominent eyelashes Reduced sperm motility Abnormal spermatogenesis Congenital hypoplastic anemia Anemia of inadequate production Progressive sensorineural hearing impairment Strabismus Azoospermia Narrow palpebral fissure Bilateral sensorineural hearing impairment Infertility Brachydactyly Anemia Sensorineural hearing impairment Visual field defect Optic disc pallor Tapered finger Reduced visual acuity Upslanted palpebral fissure Abnormal facial shape Bitemporal hollowing



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