Hypertelorism, and Esotropia

Diseases related with Hypertelorism and Esotropia

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

Top matches:

Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

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

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is a rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.

AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME Is also known as mrd25|xia-gibbs syndrome|mental retardation, autosomal dominant 25

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION

Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY-VISUAL ANOMALIES-PROGRESSIVE CEREBELLAR ATROPHY-TRUNCAL HYPOTONIA SYNDROME

Medium match SCLEROSTEOSIS

Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.

CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME Is also known as andermann syndrome|charlevoix disease|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|corpus callosum, agenesis of, with neuronopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME

Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

Top 5 symptoms//phenotypes associated to Hypertelorism and Esotropia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus High palate Abnormal facial shape Scoliosis Optic atrophy Wide nasal bridge Visual impairment Delayed speech and language development Feeding difficulties Failure to thrive Depressed nasal bridge Telecanthus Micrognathia Ptosis Delayed myelination Ventriculomegaly Prominent forehead Frontal bossing Upslanted palpebral fissure Neonatal hypotonia Short stature Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases

Intellectual disability, severe Malar flattening Dolichocephaly Facial asymmetry Broad forehead Apnea Long face Smooth philtrum Short nose Midface retrusion Facial palsy Muscular hypotonia of the trunk Prominent nasal bridge Short philtrum Craniosynostosis Sparse hair Prominent nose Thin upper lip vermilion Narrow forehead Low-set ears Macrocephaly Growth delay Cognitive impairment Epicanthus Behavioral abnormality Hyperactivity Neurodevelopmental delay Spasticity Myopia Cerebellar atrophy Cerebral atrophy Hypoplasia of the maxilla Low anterior hairline Abnormal electroretinogram Broad-based gait Ataxia Cerebral visual impairment CNS hypomyelination Progressive microcephaly Inability to walk Spastic tetraplegia Polyneuropathy EEG abnormality Limb muscle weakness Sensorimotor neuropathy Developmental regression Tetraplegia Decreased nerve conduction velocity Abnormality of the cerebral white matter Respiratory tract infection Paraparesis Peripheral axonal neuropathy Sensory neuropathy Psychosis Abnormality of retinal pigmentation Tapered finger Sutural cataract Macrotia Wide anterior fontanel Capillary hemangioma Premature loss of teeth Brittle hair Prominent supraorbital ridges Coarse hair Hemangioma Hyperpigmentation of the skin Delayed closure of the anterior fontanelle Large fontanelles Microdontia Bifid uvula Delayed eruption of teeth Wide nose Thin vermilion border Abnormality of skin pigmentation Decreased skull ossification Hypoplasia of teeth Brachycephaly Motor delay Agenesis of corpus callosum Areflexia Intellectual disability, mild Tremor Skeletal muscle atrophy Peripheral neuropathy Flexion contracture Narrow iliac wings Muscle weakness Forehead hyperpigmentation Punctate cataract Posterior wedging of vertebral bodies Posterior Y-sutural cataract Decreased motor nerve conduction velocity High iliac wings Hemiplegia/hemiparesis Renal insufficiency 2-3 toe syndactyly Agenesis of cerebellar vermis Renal dysplasia Hepatic fibrosis Oculomotor apraxia Patent foramen ovale Chorioretinal coloboma Hypoplasia of the brainstem Molar tooth sign on MRI External genital hypoplasia Nephronophthisis Acute kidney injury Congenital blindness Impaired smooth pursuit Optic nerve coloboma Central apnea Abnormal renal physiology Apraxia Abnormal corpus callosum morphology Rotary nystagmus Accessory oral frenulum Abnormal saccadic eye movements Metopic synostosis Abnormality of ocular smooth pursuit Hypoplastic male external genitalia Elongated superior cerebellar peduncle Episodic tachypnea Dysgenesis of the cerebellar vermis Brainstem dysplasia Neonatal breathing dysregulation Thickened superior cerebellar peduncle Enlarged fossa interpeduncularis Encephalocele Postaxial hand polydactyly Infantile spasms Decreased sensory nerve conduction velocity Partial agenesis of the corpus callosum Onion bulb formation Turricephaly Increased CSF protein Facial diplegia Demyelinating peripheral neuropathy Aqueductal stenosis Restrictive deficit on pulmonary function testing Motor polyneuropathy Progressive peripheral neuropathy EMG: chronic denervation signs Diffuse white matter abnormalities Axonal degeneration/regeneration Limb tremor Abnormal anterior horn cell morphology Dandy-Walker malformation Muscular hypotonia Hydrocephalus Blindness Pulmonic stenosis Microphthalmia Polydactyly Camptodactyly Coloboma Retinopathy Abnormality of the foot Postaxial polydactyly Retinal dystrophy Renal cyst Abnormal cerebellum morphology Joint hyperflexibility Abnormality of pelvic girdle bone morphology Carious teeth Edema Blepharophimosis Small for gestational age Synophrys Thick eyebrow Underdeveloped nasal alae Eczema Hypotelorism Narrow face Short chin Brisk reflexes Thick upper lip vermilion Achilles tendon contracture Respiratory insufficiency Absent speech Pes cavus Encephalopathy Myoclonus High forehead Anxiety Unsteady gait Epileptic encephalopathy Open mouth Cafe-au-lait spot Deep philtrum Precocious puberty Bilateral ptosis Overlapping toe Myopathic facies Postnatal growth retardation Elevated serum creatine phosphokinase Dystonia Minimal change glomerulonephritis Hypothyroidism Aggressive behavior Growth hormone deficiency Intrauterine growth retardation Cerebellar hypoplasia Proteinuria Dysmetria Arachnodactyly Stage 5 chronic kidney disease Polymicrogyria Nephrotic syndrome Glomerulosclerosis Focal segmental glomerulosclerosis Downslanted palpebral fissures Hypertonia Respiratory distress Sleep apnea Laryngomalacia Cortical gyral simplification Tracheomalacia Obstructive sleep apnea Snoring Retrocerebellar cyst Uplifted earlobe Hyperreflexia Dysarthria Myopathy Abnormality of the dentition Facial hypotonia Hyporeflexia Narrow chest Sclerotic scapulae Abnormal cranial nerve morphology Broad ribs Abnormal cortical bone morphology Abnormality of the nose Craniofacial hyperostosis Fingernail dysplasia Diaphyseal thickening Deviation of finger Esodeviation Broad clavicles Sclerotic vertebral endplates Trigeminal neuralgia 2-3 finger syndactyly Curved distal phalanges of the hand Constriction of peripheral visual field Facial palsy secondary to cranial hyperostosis Cortically dense long tubular bones Cleft palate Cataract Cryptorchidism Anteverted nares Long philtrum Gastroesophageal reflux Osteopenia Skeletal dysplasia Pes planus Joint laxity Wide mouth Hyperostosis Anosmia Retrognathia Hearing impairment Deeply set eye Hypermetropia Anal atresia Astigmatism Postnatal microcephaly Gingival overgrowth Intellectual disability, progressive Limb hypertonia Abnormality of visual evoked potentials Corpus callosum atrophy Short upper lip Prominent fingertip pads Laryngotracheomalacia Sensorineural hearing impairment Increased intracranial pressure Syndactyly Headache Visual loss Proptosis Mandibular prognathia Paralysis Finger syndactyly Dental malocclusion Nail dysplasia Overgrowth Tall stature Increased bone mineral density Cutaneous syndactyly Noncommunicating hydrocephalus


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