Frontal bossing, and Esotropia

Diseases related with Frontal bossing and Esotropia

In the following list you will find some of the most common rare diseases related to Frontal bossing and Esotropia. Browse more diseases related to these clinical features.

High match ASYMMETRIC SHORT STATURE SYNDROME

Related symptoms:

  • Asymmetric short stature
  • Hemihypotrophy of lower limb
  • Lumbar scoliosis
  • Fused cervical vertebrae
  • Esotropia


SOURCES: OMIM

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High match PEROXISOME BIOGENESIS DISORDER 2B

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX5 gene have cells of complementation group 2 (CG2). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Polar cataract
  • Elevated long chain fatty acids
  • Adrenal insufficiency
  • Esotropia
  • High, narrow palate


SOURCES: OMIM

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High match SCLEROSTEOSIS 1

Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001). Genetic Heterogeneity of SclerosteosisSclerosteosis-2 (SOST2 ) is caused by mutation in the LRP4 gene (OMIM ) on chromosome 11p11.2.

SCLEROSTEOSIS 1 Is also known as sost, cortical hyperostosis with syndactyly

Related symptoms:

  • Facial palsy secondary to cranial hyperostosis
  • Cortically dense long tubular bones
  • Sclerotic scapulae
  • Sclerotic vertebral endplates
  • Broad clavicles


SOURCES: OMIM

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High match HAREL-YOON SYNDROME; HAYOS

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

Related symptoms:

  • Inability to walk
  • Absence seizures
  • Peripheral axonal neuropathy
  • Esotropia
  • Abnormality of the foot


SOURCES: OMIM

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High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 1

Related symptoms:

  • Abnormality of lower lip
  • Short attention span
  • Short chin
  • Polyphagia
  • Language impairment


SOURCES: OMIM

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High match W SYNDROME

W SYNDROME Is also known as w syndrome;

Related symptoms:

  • Agenesis of maxillary central incisor
  • Broad uvula
  • Abnormality of the scalp hair
  • Upper lip pit
  • Agenesis of central incisor


SOURCES: OMIM ORPHANET

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High match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

  • Appendicular hypotonia
  • Profound static encephalopathy
  • Profound global developmental delay
  • Global brain atrophy
  • Facial hypotonia


SOURCES: OMIM

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High match JOUBERT SYNDROME 2

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 Is also known as cerebellooculorenal syndrome 2;cors2

Related symptoms:

  • Dysgenesis of the cerebellar vermis
  • Enlarged fossa interpeduncularis
  • Abnormality of saccadic eye movements
  • Thickened superior cerebellar peduncle
  • Episodic tachypnea


SOURCES: OMIM

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High match CRANIOLENTICULOSUTURAL DYSPLASIA

Craniolenticulosutural dysplasia is an autosomal recessive disorder characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects (summary by Boyadjiev et al., 2011).

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome;

Related symptoms:

  • Forehead hyperpigmentation
  • Posterior wedging of vertebral bodies
  • Punctate cataract
  • Posterior Y-sutural cataract
  • Sutural cataract


SOURCES: ORPHANET OMIM

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High match CRANIOFACIAL DYSSYNOSTOSIS

CRANIOFACIAL DYSSYNOSTOSIS Is also known as bilateral lambdoid and sagittal synostosis;blss;

Related symptoms:

  • Abnormal shape of the occiput
  • Abnormal location of ears
  • Enlarged cisterna magna
  • Brachyturricephaly
  • Abnormality of the oral cavity


SOURCES: OMIM ORPHANET

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Top 5 symptoms//phenotypes associated to Frontal bossing and Esotropia

Symptoms // Phenotype % Cases
Intellectual disability 60%
Autosomal recessive inheritance 60%
Low-set ears 50%
Wide nasal bridge 50%
Nystagmus 50%
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Other less frequent symptoms

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

50% Hypertelorism 40% Seizures 40% Micrognathia 40% Generalized hypotonia 30% Scoliosis 30% Downslanted palpebral fissures 30% Global developmental delay 30% Short stature 30% Ataxia 30% High forehead 30% Depressed nasal bridge 30% Midface retrusion 30% Malar flattening 30% Epicanthus 30% Macrocephaly 30% Open mouth 30% Anteverted nares 30% Thin upper lip vermilion 30% Optic atrophy 30% Dolichocephaly 20% Visual impairment 20% Hydrocephalus 20% Autosomal dominant inheritance 20% Smooth philtrum 20% Delayed speech and language development 20% Myopia 20% Short nose 20% Feeding difficulties 20% Microcephaly 20% Abnormality of the foot 20% Wide mouth 20% Prominent nose 20% Broad forehead 20% High palate 20% Prominent nasal bridge 20% Mandibular prognathia 20% Prominent forehead 20% Short philtrum 20% Osteopenia 20% Hypermetropia 20% Hypoplasia of the corpus callosum 20% Short neck 20% Spasticity 20% Pes planus 20% Bulbous nose 20% Cryptorchidism 10% Brachycephaly 10% Heterogeneous 10% Ptosis 10% Intrauterine growth retardation 10% Impaired smooth pursuit 10% Constipation 10% Cerebral atrophy 10% Enlarged fossa interpeduncularis 10% Failure to thrive 10% Abnormal renal physiology 10% Posteriorly rotated ears 10% Central apnea 10% Forehead hyperpigmentation 10% Posterior wedging of vertebral bodies 10% Punctate cataract 10% Dysgenesis of the cerebellar vermis 10% Molar tooth sign on MRI 10% Nephronophthisis 10% Elongated superior cerebellar peduncle 10% Hypoplastic male external genitalia 10% Hypoplasia of the brainstem 10% Oculomotor apraxia 10% Chorioretinal coloboma 10% Encephalocele 10% Retinal dystrophy 10% Renal cyst 10% Postaxial hand polydactyly 10% Abnormality of the corpus callosum 10% Microphthalmia 10% Brainstem dysplasia 10% Neonatal breathing dysregulation 10% Agenesis of cerebellar vermis 10% Episodic tachypnea 10% Optic nerve coloboma 10% Thickened superior cerebellar peduncle 10% Abnormality of saccadic eye movements 10% Asymmetric short stature 10% Posterior Y-sutural cataract 10% Horseshoe kidney 10% Abnormal shape of the occiput 10% Abnormal location of ears 10% Enlarged cisterna magna 10% Brachyturricephaly 10% Abnormality of the oral cavity 10% Nevus flammeus 10% Arnold-Chiari type I malformation 10% Stenosis of the external auditory canal 10% Underdeveloped supraorbital ridges 10% Pyloric stenosis 10% Sacral dimple 10% Narrow forehead 10% Long philtrum 10% Severe global developmental delay 10% Underdeveloped nasal alae 10% Facial asymmetry 10% Craniosynostosis 10% Agenesis of corpus callosum 10% Umbilical hernia 10% Sporadic 10% Patent ductus arteriosus 10% Hypospadias 10% Clinodactyly of the 5th finger 10% Ventricular septal defect 10% Cleft palate 10% Gastroesophageal reflux 10% Sutural cataract 10% Hyperpigmentation of the skin 10% High iliac wings 10% Narrow iliac wings 10% Hypoplasia of teeth 10% Capillary hemangiomas 10% Premature loss of teeth 10% Delayed closure of the anterior fontanelle 10% Decreased skull ossification 10% Prominent supraorbital ridges 10% Brittle hair 10% Coarse hair 10% Wide anterior fontanel 10% Bifid uvula 10% Joint hyperflexibility 10% Abnormality of skin pigmentation 10% Wide nose 10% Microdontia 10% Hypoplasia of the maxilla 10% Thin vermilion border 10% Delayed eruption of teeth 10% Skeletal dysplasia 10% Joint laxity 10% Sparse hair 10% Carious teeth 10% Narrow chest 10% Large fontanelles 10% Clinodactyly 10% Triangular face 10% Long face 10% Proptosis 10% Cognitive impairment 10% Hearing impairment 10% Inability to walk 10% Absence seizures 10% Peripheral axonal neuropathy 10% Hip dysplasia 10% Muscular hypotonia of the trunk 10% Distal amyotrophy 10% Hypertrophic cardiomyopathy 10% Visual loss 10% Deeply set eye 10% Upslanted palpebral fissure 10% Cerebellar atrophy 10% Abnormality of lower lip 10% Short attention span 10% Short chin 10% Polyphagia 10% Language impairment 10% Self-injurious behavior 10% Cupped ear 10% Headache 10% Nail dysplasia 10% Widely spaced teeth 10% Cortically dense long tubular bones 10% Lumbar scoliosis 10% Fused cervical vertebrae 10% Dental crowding 10% Convex nasal ridge 10% Polar cataract 10% Elevated long chain fatty acids 10% Adrenal insufficiency 10% High, narrow palate 10% Abnormal facial shape 10% Facial palsy secondary to cranial hyperostosis 10% Sclerotic scapulae 10% Dental malocclusion 10% Sclerotic vertebral endplates 10% Broad clavicles 10% 2-3 finger syndactyly 10% Broad ribs 10% Deviation of finger 10% Overgrowth 10% Sudden death 10% Constriction of peripheral visual field 10% Increased intracranial pressure 10% Abnormality of pelvic girdle bone morphology 10% Febrile seizures 10% Sandal gap 10% Tapered finger 10% Appendicular hypotonia 10% Radial deviation of finger 10% Joint contracture of the hand 10% Generalized tonic-clonic seizures 10% Broad nasal tip 10% Camptodactyly 10% Hemihypotrophy of lower limb 10% X-linked inheritance 10% Telecanthus 10% Pes cavus 10% Profound static encephalopathy 10% Cubitus valgus 10% Profound global developmental delay 10% Global brain atrophy 10% Facial hypotonia 10% Dyskinesia 10% Hip contracture 10% Failure to thrive in infancy 10% Plagiocephaly 10% Intellectual disability, profound 10% Cachexia 10% Absent speech 10% Elbow dislocation 10% Hypoplasia of the ulna 10% Astigmatism 10% Feeding difficulties in infancy 10% Small hand 10% Highly arched eyebrow 10% Thick eyebrow 10% Postnatal growth retardation 10% Short foot 10% Downturned corners of mouth 10% Microtia 10% Aggressive behavior 10% Protruding ear 10% Retrognathia 10% Motor delay 10% Metatarsus adductus 10% Agenesis of maxillary central incisor 10% Broad uvula 10% Abnormality of the scalp hair 10% Upper lip pit 10% Agenesis of central incisor 10% Alternating esotropia 10% Frontal upsweep of hair 10% Radial bowing 10% Submucous cleft hard palate 10% Acne 10% Strabismus

Other symptoms that you may find interesting

Frontal bossing and Holoprosencephaly Diseases and genetic alterations