Hypertelorism, and Nystagmus

Diseases related with Hypertelorism and Nystagmus

In the following list you will find some of the most common rare diseases related to Hypertelorism and Nystagmus that can help you solving undiagnosed cases.

Top matches:

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

Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

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

Other less relevant matches:

Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

Medium match COLOBOMA OF IRIS

Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular ColobomaA recessive form of ocular coloboma (OMIM ) is caused by mutation in the SALL2 gene (OMIM ) on chromosome 14q11.

COLOBOMA OF IRIS Is also known as coloboma of iris, choroid, and retina|coi|coloboma, uveoretinal

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLOBOMA OF IRIS

Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Top 5 symptoms//phenotypes associated to Hypertelorism and Nystagmus

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Cerebellar hypoplasia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Nystagmus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Microcephaly Agenesis of corpus callosum Spasticity Apraxia Delayed speech and language development Anteverted nares Cerebellar atrophy Strabismus Myopia Frontal bossing Hyperreflexia Growth delay Ataxia Short stature

Rare Symptoms - Less than 30% cases

Hypertonia Postnatal growth retardation Generalized-onset seizure Glaucoma Scoliosis Cleft palate Short neck Broad forehead Dysmetria Narrow forehead Cryptorchidism Intrauterine growth retardation Microphthalmia Ptosis Micropenis Poor speech Visual impairment Intellectual disability, mild Retrognathia Polymicrogyria Dysarthria Abnormal cerebellum morphology Depressed nasal bridge Oculomotor apraxia Prominent forehead Molar tooth sign on MRI Macrocephaly Intellectual disability, moderate Coloboma Corneal opacity Iris coloboma Microcornea Vesicoureteral reflux Aganglionic megacolon Aortic aneurysm Dilatation Chorioretinal coloboma Increased intraocular pressure Optic nerve coloboma Peters anomaly Remnants of the hyaloid vascular system Morning glory anomaly Optic nerve aplasia Reduced visual acuity Ventriculomegaly Oxycephaly Scrotal hypoplasia Brachycephaly Telecanthus Underdeveloped nasal alae Oligohydramnios Fine hair Encephalocele Coronal craniosynostosis Visceromegaly Calvarial skull defect Conical tooth Broad philtrum Agenesis of cerebellar vermis Bifid nose Esodeviation Hypertension Recurrent infections Bilateral cryptorchidism Adducted thumb Hyporeflexia Glomerulosclerosis Focal segmental glomerulosclerosis Minimal change glomerulonephritis Hydrocephalus Absent septum pellucidum Intellectual disability, severe Babinski sign Esotropia Coarse facial features Hemiplegia/hemiparesis Joint stiffness Spastic paraplegia Small hand Holoprosencephaly Increased intracranial pressure Nephrotic syndrome Stage 5 chronic kidney disease Hypothyroidism Panhypopituitarism Cleft lip Growth hormone deficiency Tachypnea Hypogonadism Cone/cone-rod dystrophy Recurrent upper respiratory tract infections Bilateral ptosis Central hypothyroidism Arachnodactyly Ectopic posterior pituitary Inferior vermis hypoplasia Micrognathia High palate Feeding difficulties Cerebral atrophy Proteinuria Aqueductal stenosis Attention deficit hyperactivity disorder Upslanted palpebral fissure Lissencephaly Prominent nasal bridge Downslanted palpebral fissures Sloping forehead Intellectual disability, profound Pachygyria Lymphedema Prominent occiput Short nose Severe postnatal growth retardation Colpocephaly Cavum septum pellucidum Type I lissencephaly Thick cerebral cortex Bitemporal hollowing Failure to thrive Behavioral abnormality Obesity Elongated superior cerebellar peduncle Language impairment Broad nasal tip Delayed myelination Open mouth Stereotypy Drooling Delayed gross motor development Relative macrocephaly Delayed ability to walk Hyperactivity Large forehead Speech apraxia Aggressive behavior Anxiety Autism Hypoplasia of the corpus callosum Atrial septal defect Hearing impairment Cataract Alopecia Hip dysplasia Osteoporosis Gait ataxia Osteopenia EEG abnormality Postaxial polydactyly Unsteady gait Inability to walk Status epilepticus Optic atrophy Cerebral visual impairment Infantile muscular hypotonia Brisk reflexes Polydactyly Low-set ears Irritability Abnormality of the dentition Tremor Wide nasal bridge Talipes equinovarus Flat face Large for gestational age Kyphosis Skeletal dysplasia Hyperlordosis Platyspondyly Narrow chest Micromelia Retinal detachment Cerebellar vermis hypoplasia Limitation of joint mobility Osteoarthritis Abnormality of epiphysis morphology Coxa vara Short thorax Tall stature Cognitive impairment Flexion contracture of thumb


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