Undiagnosed 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 that can help you to solve undiagnosed cases. Browse more diseases related to these clinical features.

Medium match PEROXISOME BIOGENESIS DISORDER 2B; PBD2B

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:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM MONDO UMLS

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Medium match CHROMOSOME 5q12 DELETION SYNDROME

CHROMOSOME 5q12 DELETION SYNDROME Is also known as ;pde4d haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS ORPHANET DOID MONDO OMIM

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Medium match SCLEROSTEOSIS 1; SOST1

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; SOST1 Is also known as sost, cortical hyperostosis with syndactyly;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.

Related symptoms:

  • Autosomal recessive inheritance
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus


SOURCES: DOID SCTID UMLS OMIM MONDO ORPHANET

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Medium match CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD

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; CLSD Is also known as boyadjiev-jabs syndrome;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.

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: SCTID MONDO UMLS MESH OMIM ORPHANET

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Medium 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:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO OMIM UMLS

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

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Medium 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).

HAREL-YOON SYNDROME; HAYOS Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: ORPHANET OMIM UMLS MONDO

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Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS MONDO OMIM MESH DOID NCIT

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

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Medium match JOUBERT SYNDROME 2; JBTS2

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 cerebellooculorenal syndrome 2;cors2

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: DOID OMIM MONDO UMLS MESH GARD

More info about JOUBERT SYNDROME 2; JBTS2

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Medium match ZTTK SYNDROME; ZTTKS

ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).

ZTTK SYNDROME; ZTTKS Is also known as zhu-tokita-takenouchi-kim syndrome, zttk multiple congenital anomalies-mental retardation syndrome;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MONDO OMIM ORPHANET UMLS

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Medium match SCHAAF-YANG SYNDROME; SHFYNG

SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

SCHAAF-YANG SYNDROME; SHFYNG Is also known as prader-willi-like syndrome;pwls;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: GARD OMIM ORPHANET MONDO UMLS

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

Symptoms // Phenotype % Cases
Intellectual disability 80%
Seizures 70%
Generalized hypotonia 70%
Global developmental delay 70%
Autosomal recessive inheritance 60%
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Other less frequent symptoms

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

60% Abnormal facial shape 60% Feeding difficulties 50% Strabismus 50% Scoliosis 50% Thin upper lip vermilion 50% Ptosis 50% Autosomal dominant inheritance 50% Nystagmus 50% High palate 50% Low-set ears 40% Wide nasal bridge 40% Optic atrophy 40% Short stature 40% Failure to thrive 40% Prominent nose 40% Joint laxity 40% Short nose 40% Smooth philtrum 40% Visual impairment 40% Anteverted nares 40% Micrognathia 40% Delayed speech and language development 40% Hypertelorism 40% Small hand 30% Autism 30% Depressed nasal bridge 30% Autistic behavior 30% Mandibular prognathia 30% Open mouth 30% Short foot 30% Absent speech 30% Cleft palate 30% Macrocephaly 30% Oxycephaly 30% Prominent forehead 30% Wide mouth 30% Sleep disturbance 30% Ataxia 30% Myopia 30% Hypermetropia 30% Neonatal hypotonia 30% Coarse facial features 30% Abnormality of the skeletal system 30% Short philtrum 30% Epicanthus 20% Cryptorchidism 20% Camptodactyly 20% Long philtrum 20% Cataract 20% Prominent nasal bridge 20% Thin vermilion border 20% Flexion contracture 20% Abnormality of the foot 20% Growth delay 20% Craniosynostosis 20% Deeply set eye 20% Gait ataxia 20% Failure to thrive in infancy 20% Kyphosis 20% Narrow forehead 20% Exotropia 20% Respiratory distress 20% Gastroesophageal reflux 20% Infantile onset 20% Osteopenia 20% Tented upper lip vermilion 20% Short chin 20% Encephalopathy 20% Pes planus 20% Hypoplasia of the corpus callosum 20% Tapered finger 20% Spasticity 20% Short neck 20% Downslanted palpebral fissures 20% Thick eyebrow 20% Constipation 20% Dolichocephaly 20% Facial asymmetry 20% Brachycephaly 20% Postnatal growth retardation 20% Malar flattening 20% Midface retrusion 20% Protruding ear 20% Visual loss 20% Bulbous nose 20% Microcephaly 20% Pica 20% Posteriorly rotated ears 20% Retrognathia 20% Clinodactyly 20% Infantile muscular hypotonia 20% High forehead 20% Polyphagia 20% Muscular hypotonia of the trunk 20% Broad forehead 20% Motor delay 20% Absence seizures 10% Molar tooth sign on MRI 10% Central apnea 10% External genital hypoplasia 10% Retinal coloboma 10% Acute kidney injury 10% Congenital blindness 10% Impaired smooth pursuit 10% Optic nerve coloboma 10% Communicating hydrocephalus 10% Agenesis of cerebellar vermis 10% Rotary nystagmus 10% Nephronophthisis 10% Large forehead 10% Hypoplasia of the brainstem 10% Cupped ear 10% Neoplasm 10% Muscular hypotonia 10% Abnormality of lower lip 10% Hemifacial hypoplasia 10% Short attention span 10% Self-injurious behavior 10% Language impairment 10% Blindness 10% Focal seizures with impairment of consciousness or awareness 10% Finger clinodactyly 10% Widely spaced teeth 10% Sandal gap 10% Low anterior hairline 10% Dental crowding 10% Hydrocephalus 10% Renal insufficiency 10% Chorioretinal coloboma 10% Postaxial polydactyly 10% Patent foramen ovale 10% Oculomotor apraxia 10% Abnormal electroretinogram 10% Encephalocele 10% Apraxia 10% Postaxial hand polydactyly 10% Abnormal cerebellum morphology 10% Microphthalmia 10% Retinal dystrophy 10% Renal cyst 10% Coloboma 10% Retinopathy 10% Polydactyly 10% Heterogeneous 10% Renal dysplasia 10% Episodic tachypnea 10% Abnormal corpus callosum morphology 10% Hyperlordosis 10% Hyperinsulinemia 10% Microretrognathia 10% Decreased fetal movement 10% Short palpebral fissure 10% Talipes 10% Arthrogryposis multiplex congenita 10% Apnea 10% Hypoglycemia 10% Poor suck 10% Hyperhidrosis 10% Hypogonadism 10% Micropenis 10% Polyhydramnios 10% Depressivity 10% Obesity 10% Respiratory insufficiency 10% Adducted thumb 10% Trigonocephaly 10% Brachydactyly 10% Fetal akinesia sequence 10% Narrow palm 10% Multiple pterygia 10% Temperature instability 10% Abnormality of the philtrum 10% Excessive salivation 10% Hyperventilation 10% Hyperinsulinemic hypoglycemia 10% Misalignment of teeth 10% Akinesia 10% Hypoventilation 10% Short humerus 10% Impulsivity 10% Pterygium 10% Limited elbow extension 10% Sleep apnea 10% Increased body weight 10% Talipes equinovarus 10% Nevus 10% Accessory oral frenulum 10% Neonatal breathing dysregulation 10% Abnormality of the dentition 10% Ventricular septal defect 10% Ventriculomegaly 10% Noncommunicating hydrocephalus 10% Thickened superior cerebellar peduncle 10% Enlarged fossa interpeduncularis 10% Brainstem dysplasia 10% Dysgenesis of the cerebellar vermis 10% Cerebellar hypoplasia 10% Hypoplastic male external genitalia 10% Febrile seizures 10% Elongated superior cerebellar peduncle 10% Abnormality of ocular smooth pursuit 10% Abnormal saccadic eye movements 10% Metopic synostosis 10% Abnormal renal physiology 10% Abnormality of cardiovascular system morphology 10% Narrow mouth 10% Horizontal eyebrow 10% Relative macrocephaly 10% Intestinal atresia 10% Periventricular leukomalacia 10% Soft skin 10% Arachnoid cyst 10% Curly hair 10% Abnormality of coagulation 10% Sparse eyebrow 10% Hemivertebrae 10% Abnormality of the genital system 10% Horseshoe kidney 10% Cortical visual impairment 10% Abnormality of the ribs 10% Full cheeks 10% Joint hypermobility 10% Arachnodactyly 10% Abnormality of the cerebral white matter 10% Developmental regression 10% Epileptic encephalopathy 10% Abnormality of mitochondrial metabolism 10% Focal seizures 10% Hypotelorism 10% Deviation of finger 10% Diaphyseal thickening 10% Fingernail dysplasia 10% Esodeviation 10% Broad clavicles 10% Trigeminal neuralgia 10% Sclerotic vertebral endplates 10% 2-3 finger syndactyly 10% Sclerotic scapulae 10% Facial palsy secondary to cranial hyperostosis 10% Curved distal phalanges of the hand 10% Cortically dense long tubular bones 10% Short long bone 10% Hypotension 10% Skeletal dysplasia 10% Abnormality of the nose 10% Hypoplasia of the maxilla 10% Hemangioma 10% Wide anterior fontanel 10% Hyperpigmentation of the skin 10% Large fontanelles 10% Microdontia 10% Bifid uvula 10% Wide nose 10% Sparse hair 10% Delayed eruption of teeth 10% Abnormality of skin pigmentation 10% Pulmonic stenosis 10% Carious teeth 10% Narrow chest 10% Joint hyperflexibility 10% Abnormal cortical bone morphology 10% Craniofacial hyperostosis 10% Brittle hair 10% Facial palsy 10% Decreased body mass index 10% Hearing impairment 10% Upper limb undergrowth 10% Low hanging columella 10% Long palpebral fissure 10% Sensorineural hearing impairment 10% Cognitive impairment 10% Disproportionate tall stature 10% Long fingers 10% Syndactyly 10% Short middle phalanx of finger 10% Headache 10% Proptosis 10% Hyperactivity 10% Finger syndactyly 10% Sudden death 10% Anosmia 10% Broad ribs 10% Abnormal cranial nerve morphology 10% Hyperostosis 10% Constriction of peripheral visual field 10% Cutaneous syndactyly 10% Increased intracranial pressure 10% Abnormality of pelvic girdle bone morphology 10% Acrania 10% Increased bone mineral density 10% Overgrowth 10% Tall stature 10% Dental malocclusion 10% Paralysis 10% Nail dysplasia 10% Coarse hair 10% Prominent supraorbital ridges 10% Astigmatism 10% Inability to walk 10% Cerebellar atrophy 10% Adrenal insufficiency 10% Delayed skeletal maturation 10% Upslanted palpebral fissure 10% Hypertrophic cardiomyopathy 10% Pectus carinatum 10% Congenital cataract 10% Delayed puberty 10% Distal amyotrophy 10% Long face 10% Peripheral axonal neuropathy 10% Aciduria 10% Increased serum lactate 10% Hip dysplasia 10% Optic nerve hypoplasia 10% Polar cataract 10% Feeding difficulties in infancy 10% Highly arched eyebrow 10% Downturned corners of mouth 10% Everted lower lip vermilion 10% Short palm 10% Microtia 10% Aggressive behavior 10% EEG abnormality 10% Long toe 10% High, narrow palate 10% Clinodactyly of the 5th finger 10% Vomiting 10% Behavioral abnormality 10% Fever 10% Intellectual disability, severe 10% Cardiomyopathy 10% Peripheral neuropathy 10% Premature loss of teeth 10% Severe global developmental delay 10% Capillary hemangioma 10% Decreased skull ossification 10% Delayed closure of the anterior fontanelle 10% Hypoplasia of teeth 10% Narrow iliac wings 10% Sutural cataract 10% High iliac wings 10% Posterior Y-sutural cataract 10% Posterior wedging of vertebral bodies 10% Punctate cataract 10% Forehead hyperpigmentation 10% Intrauterine growth retardation 10% Dystonia 10% Cerebral atrophy 10% Triangular face 10% Myopathy 10% Hip contracture 10% Elevated long chain fatty acids 10% Appendicular hypotonia 10% Profound static encephalopathy 10% Generalized tonic seizures 10% Profound global developmental delay 10% Facial hypotonia 10% Global brain atrophy 10% Dyskinesia 10% Cachexia 10% Plagiocephaly 10% Choreoathetosis 10% Intellectual disability, profound 10% Athetosis 10% Brain atrophy 10% Intermittent hyperventilation



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Other signs and symptoms that you may find interesting

Frontal bossing and Holoprosencephaly, related diseases and genetic alterations