Intellectual disability, and Prominent nasal bridge

Diseases related with Intellectual disability and Prominent nasal bridge

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

Top matches:

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

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

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

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

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

Other less relevant matches:

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

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

High 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

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

Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 5; SCKL5

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Top 5 symptoms//phenotypes associated to Intellectual disability and Prominent nasal bridge

Symptoms // Phenotype % cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Anteverted nares Delayed speech and language development

Rare Symptoms - Less than 30% cases

Thin upper lip vermilion Nystagmus Strabismus Abnormal facial shape Optic atrophy Tapered finger Low-set ears Feeding difficulties Sloping forehead Growth delay Intellectual disability, severe Cerebral atrophy Hypoplasia of the corpus callosum Gastroesophageal reflux Wide mouth Hypertelorism Atrial septal defect Clitoral hypertrophy Prominent forehead Intellectual disability, profound Frontal bossing Impulsivity Abnormality of metabolism/homeostasis Attention deficit hyperactivity disorder Intellectual disability, mild Behavioral abnormality Epicanthus Autistic behavior Protruding ear Hyperactivity Pes planus Obsessive-compulsive behavior Postnatal growth retardation Generalized-onset seizure Agenesis of corpus callosum Pachygyria Lymphedema Lissencephaly Prominent occiput Cerebellar hypoplasia Cerebellar atrophy Hypertonia Colpocephaly Umbilical hernia Anxiety Myopia Poor speech Hyperreflexia Fused labia minora Congenital blindness Wide nose Hip dysplasia Severe postnatal growth retardation Type I lissencephaly Cavum septum pellucidum Blepharophimosis Wide nasal bridge Absent speech Spasticity Muscle weakness Large beaked nose Selective tooth agenesis 11 pairs of ribs Abnormal cortical gyration Proportionate short stature Oligodontia Convex nasal ridge Hypodontia Retrognathia High forehead Hernia Constipation Autism Clinodactyly of the 5th finger Delayed skeletal maturation Downslanted palpebral fissures Narrow mouth Cryptorchidism Micrognathia Bitemporal hollowing Thick cerebral cortex Dystonia Severe short stature Moderate hearing impairment Abnormality of the skin Mandibular prognathia Long foot Abnormality of the musculature Abnormality of the sternum Nasal speech Growth abnormality Narrow face Hypoplasia of the maxilla Long face Arachnodactyly Narrow chest Pectus carinatum Pectus excavatum Visual impairment Kyphosis Macrocephaly Scoliosis Impaired social interactions Agitation Intellectual disability, moderate Aggressive behavior Large hands Thick vermilion border Abnormality of the pinna Macrotia Clinodactyly Slender build Upslanted palpebral fissure Brachycephaly Male infertility Blindness Muscular hypotonia Thin eyebrow Epileptic encephalopathy Febrile seizures Deeply set eye Encephalopathy Prominent eyelashes Reduced sperm motility Abnormal spermatogenesis Congenital hypoplastic anemia Anemia of inadequate production Progressive sensorineural hearing impairment Reduced visual acuity Azoospermia Narrow palpebral fissure Bilateral sensorineural hearing impairment Infertility Synophrys Brachydactyly Anemia Sensorineural hearing impairment Hearing impairment Visual field defect Cerebral visual impairment Optic disc pallor Short chin


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