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

High match ASYMMETRIC SHORT STATURE SYNDROME

Related symptoms:

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


SOURCES: OMIM

More info about ASYMMETRIC SHORT STATURE SYNDROME

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
  • Dolichocephaly


SOURCES: OMIM

More info about PEROXISOME BIOGENESIS DISORDER 2B

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
  • 2-3 finger syndactyly


SOURCES: OMIM

More info about SCLEROSTEOSIS 1

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 1

Related symptoms:

  • Abnormality of lower lip
  • Short attention span
  • Short chin
  • Cupped ear
  • Polyphagia


SOURCES: OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 1

High match W SYNDROME

W SYNDROME Is also known as w syndrome;

Related symptoms:

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


SOURCES: ORPHANET OMIM

More info about W SYNDROME

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


SOURCES: ORPHANET OMIM

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

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
  • Episodic tachypnea
  • Neonatal breathing dysregulation


SOURCES: OMIM

More info about JOUBERT SYNDROME 2

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
  • Brachyturricephaly
  • Abnormality of the oral cavity
  • Arnold-Chiari type I malformation


SOURCES: OMIM ORPHANET

More info about CRANIOFACIAL DYSSYNOSTOSIS

High match MARSHALL SYNDROME

MARSHALL SYNDROME Is also known as ;

Related symptoms:

  • Small distal femoral epiphysis
  • Wide tufts of distal phalanges
  • Meningeal calcification
  • Small proximal tibial epiphyses
  • Irregular distal femoral epiphysis


SOURCES: ORPHANET OMIM

More info about MARSHALL SYNDROME

High match LARSEN-LIKE SYNDROME, B3GAT3 TYPE

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as larsen syndrome, autosomal recessive, formerly

Related symptoms:

  • Bilateral elbow dislocations
  • Metacarpophalangeal joint hyperextensibility
  • Broad distal phalanges of all fingers
  • Prominent antitragus
  • Spatulate thumbs


SOURCES: OMIM ORPHANET

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

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

Symptoms // Phenotype % Cases
Hypertelorism 70%
Low-set ears 60%
Wide nasal bridge 60%
Depressed nasal bridge 50%
Autosomal recessive inheritance 50%
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Other less frequent symptoms

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

50% Intellectual disability 50% Short stature 40% Midface retrusion 40% Malar flattening 40% High palate 40% Micrognathia 40% Nystagmus 30% Downslanted palpebral fissures 30% Seizures 30% Pes planus 30% Epicanthus 30% Visual impairment 30% Cleft palate 30% Hydrocephalus 30% Anteverted nares 30% Hypermetropia 30% Dolichocephaly 30% Macrocephaly 20% Flat face 20% Wide mouth 20% Genu valgum 20% Microtia 20% Thick eyebrow 20% Open mouth 20% Thin upper lip vermilion 20% Motor delay 20% Short nose 20% Myopia 20% Strabismus 20% Ataxia 20% Microdontia 20% Scoliosis 20% Cryptorchidism 20% Long philtrum 20% Osteopenia 20% Joint laxity 20% Hypoplasia of the maxilla 20% Generalized hypotonia 20% Autosomal dominant inheritance 20% Short neck 20% Sandal gap 20% Global developmental delay 20% Prominent forehead 20% Metatarsus adductus 20% Radial bowing 20% Amblyopia 20% Brachycephaly 20% Narrow chest 20% Proptosis 10% Bilateral elbow dislocations 10% Facial asymmetry 10% Stenosis of the external auditory canal 10% Underdeveloped supraorbital ridges 10% Pyloric stenosis 10% Mitral valve prolapse 10% Horseshoe kidney 10% Sacral dimple 10% Narrow forehead 10% Severe global developmental delay 10% Accelerated skeletal maturation 10% Underdeveloped nasal alae 10% Craniosynostosis 10% Nevus flammeus 10% Short philtrum 10% Agenesis of corpus callosum 10% Umbilical hernia 10% Sporadic 10% Hypoplasia of the corpus callosum 10% Patent ductus arteriosus 10% Hypospadias 10% Ventriculomegaly 10% Clinodactyly of the 5th finger 10% Ventricular septal defect 10% Hyperextensible skin 10% Radioulnar synostosis 10% Blue sclerae 10% Congenital diaphragmatic hernia 10% Elbow flexion contracture 10% Delayed skeletal maturation 10% Nephronophthisis 10% Hypoplasia of the brainstem 10% Oculomotor apraxia 10% Chorioretinal coloboma 10% Retinal dystrophy 10% Encephalocele 10% Renal cyst 10% Abnormality of the foot 10% Postaxial hand polydactyly 10% Microphthalmia 10% Heterogeneous 10% Inguinal hernia 10% Arnold-Chiari type I malformation 10% Narrow mouth 10% Pectus carinatum 10% Hip dislocation 10% Failure to thrive 10% Low posterior hairline 10% Muscular hypotonia 10% Webbed neck 10% Abnormal shape of the occiput 10% Abnormal location of ears 10% Brachyturricephaly 10% Abnormality of the oral cavity 10% Small distal femoral epiphysis 10% Bicuspid aortic valve 10% Wide tufts of distal phalanges 10% Thick lower lip vermilion 10% Small face 10% Congenital glaucoma 10% Generalized osteoporosis 10% Hypohidrosis 10% Congenital cataract 10% Talipes equinovalgus 10% Shoulder dislocation 10% Retinal detachment 10% Knee dislocation 10% Cerebral calcification 10% Sparse and thin eyebrow 10% Enlarged metaphyses 10% Osteoarthritis 10% Hypotrichosis 10% Multiple joint dislocation 10% Spatulate thumbs 10% Platyspondyly 10% Glaucoma 10% Arthralgia 10% Prominent antitragus 10% Broad distal phalanges of all fingers 10% Metacarpophalangeal joint hyperextensibility 10% Abnormality of the dentition 10% Cataract 10% Large eyes 10% Molar tooth sign on MRI 10% Sensorineural hearing impairment 10% Vitreoretinal degeneration 10% Meningeal calcification 10% Small proximal tibial epiphyses 10% Cardiomegaly 10% Irregular distal femoral epiphysis 10% Microretrognathia 10% Lens luxation 10% Irregular proximal tibial epiphyses 10% Calcification of falx cerebri 10% Macrodontia of permanent maxillary central incisor 10% Hypoplastic frontal sinuses 10% Abnormality of the vitreous humor 10% Absent frontal sinuses 10% Aortic root dilatation 10% Ulnar bowing 10% Thick upper lip vermilion 10% Cutis laxa 10% Pierre-Robin sequence 10% Left ventricular hypertrophy 10% Hypoplastic ilia 10% Thickened calvaria 10% Hypoplasia of the zygomatic bone 10% Ectopia lentis 10% Patent foramen ovale 10% Coxa valga 10% Sparse eyelashes 10% Optic nerve coloboma 10% Asymmetric short stature 10% Impaired smooth pursuit 10% Downturned corners of mouth 10% Short chin 10% Cupped ear 10% Polyphagia 10% Febrile seizures 10% Language impairment 10% Self-injurious behavior 10% Widely spaced teeth 10% Astigmatism 10% Prominent nose 10% Small hand 10% Highly arched eyebrow 10% Bulbous nose 10% Postnatal growth retardation 10% Abnormality of lower lip 10% Short foot 10% Broad forehead 10% Aggressive behavior 10% Retrognathia 10% Protruding ear 10% Feeding difficulties in infancy 10% Microcephaly 10% Broad uvula 10% Agenesis of maxillary central incisor 10% Abnormality of the scalp hair 10% Upper lip pit 10% Agenesis of central incisor 10% Short attention span 10% Hearing impairment 10% Frontal upsweep of hair 10% 2-3 finger syndactyly 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% Abnormal facial shape 10% Facial palsy secondary to cranial hyperostosis 10% Cortically dense long tubular bones 10% Sclerotic scapulae 10% Sclerotic vertebral endplates 10% Broad clavicles 10% Optic atrophy 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% Dental malocclusion 10% Nail dysplasia 10% Visual loss 10% Headache 10% Mandibular prognathia 10% Cognitive impairment 10% Alternating esotropia 10% Submucous cleft hard palate 10% Agenesis of cerebellar vermis 10% Joint hyperflexibility 10% Wide nose 10% Large fontanelles 10% Abnormality of skin pigmentation 10% Smooth philtrum 10% Skeletal dysplasia 10% Thin vermilion border 10% Delayed eruption of teeth 10% Sparse hair 10% Carious teeth 10% Prominent nasal bridge 10% Hemihypotrophy of lower limb 10% Gastroesophageal reflux 10% Delayed speech and language development 10% Hyperpigmentation of the skin 10% Dysgenesis of the cerebellar vermis 10% Enlarged fossa interpeduncularis 10% Abnormality of saccadic eye movements 10% Episodic tachypnea 10% Neonatal breathing dysregulation 10% Brainstem dysplasia 10% Thickened superior cerebellar peduncle 10% Abnormality of the corpus callosum 10% Elongated superior cerebellar peduncle 10% Hypoplastic male external genitalia 10% Abnormal renal physiology 10% Central apnea 10% Bifid uvula 10% Wide anterior fontanel 10% Acne 10% Spasticity 10% Hypoplasia of the ulna 10% Cubitus valgus 10% Elbow dislocation 10% Radial deviation of finger 10% Joint contracture of the hand 10% Broad nasal tip 10% Generalized tonic-clonic seizures 10% Camptodactyly 10% Clinodactyly 10% Telecanthus 10% X-linked inheritance 10% Pes cavus 10% Forehead hyperpigmentation 10% Coarse hair 10% Punctate cataract 10% Posterior wedging of vertebral bodies 10% Posterior Y-sutural cataract 10% Sutural cataract 10% High iliac wings 10% Narrow iliac wings 10% Hypoplasia of teeth 10% Capillary hemangiomas 10% Delayed closure of the anterior fontanelle 10% Premature loss of teeth 10% Decreased skull ossification 10% Prominent supraorbital ridges 10% Brittle hair 10% Talipes equinovarus

Other symptoms that you may find interesting

Frontal bossing and Holoprosencephaly Diseases and genetic alterations