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 solving undiagnosed cases.


Top matches:

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 UMLS MONDO

More info about PEROXISOME BIOGENESIS DISORDER 2B; PBD2B

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;cortical hyperostosis-syndactyly syndrome

Related symptoms:

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


SOURCES: MONDO UMLS SCTID OMIM DOID ORPHANET

More info about SCLEROSTEOSIS 1; SOST1

Medium match CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD

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

Related symptoms:

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


SOURCES: OMIM SCTID UMLS MESH MONDO ORPHANET

More info about CRANIOLENTICULOSUTURAL DYSPLASIA; CLSD

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Other less relevant matches:

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: OMIM UMLS MONDO

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

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 ;harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MONDO UMLS

More info about HAREL-YOON SYNDROME; HAYOS

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

Related symptoms:

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


SOURCES: DOID MONDO NCIT MESH UMLS OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

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: UMLS DOID GARD OMIM MESH MONDO

More info about JOUBERT SYNDROME 2; JBTS2

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: UMLS ORPHANET OMIM MONDO

More info about ZTTK SYNDROME; ZTTKS

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;pws due to a point mutation; schaaf-yang syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET UMLS MONDO GARD

More info about SCHAAF-YANG SYNDROME; SHFYNG

Medium match MARSHALL SYNDROME; MRSHS

Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

MARSHALL SYNDROME; MRSHS Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM UMLS MESH SCTID GARD NCIT MONDO ORPHANET

More info about MARSHALL SYNDROME; MRSHS

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Abnormal facial shape Scoliosis Short stature Autosomal dominant inheritance Short nose Hypertelorism Wide nasal bridge Thin upper lip vermilion Small hand Visual impairment Epicanthus Micrognathia Myopia Failure to thrive Optic atrophy Depressed nasal bridge Smooth philtrum Ptosis Cleft palate Abnormality of the skeletal system Open mouth Sleep disturbance Macrocephaly Cataract Delayed speech and language development Prominent forehead Oxycephaly Absent speech Joint laxity Wide mouth Prominent nose Ataxia Malar flattening Short foot Mandibular prognathia Midface retrusion Autism Autistic behavior

Rare Symptoms - Less than 30% cases


Retrognathia Craniosynostosis Camptodactyly Muscular hypotonia of the trunk High forehead Flexion contracture Brachycephaly Constipation Neonatal hypotonia Encephalopathy Hypoplasia of the corpus callosum Short neck Downslanted palpebral fissures Kyphosis Abnormality of the dentition Spasticity Microcephaly Pica Depressivity Short philtrum Broad forehead Polyphagia Postnatal growth retardation Absence seizures Clinodactyly Congenital cataract Deeply set eye Gait ataxia Hyperhidrosis Coarse facial features Infantile onset Respiratory distress Narrow forehead Infantile muscular hypotonia Failure to thrive in infancy Tented upper lip vermilion Facial asymmetry Hypermetropia Tapered finger Bulbous nose Exotropia Sparse eyebrow Thick eyebrow Motor delay Abnormality of the foot Protruding ear Bifid uvula Hypoplasia of the maxilla Sensorineural hearing impairment Cryptorchidism Long philtrum Osteopenia Gastroesophageal reflux Acrania Sparse hair Prominent nasal bridge Proptosis Thin vermilion border Hearing impairment Visual loss Dolichocephaly Brachydactyly Micropenis Obesity High, narrow palate Full cheeks Polyhydramnios Hypogonadism Joint hypermobility Elevated long chain fatty acids Hypoglycemia Arachnodactyly Abnormality of the cerebral white matter Hyperlordosis Developmental regression Abnormality of the ribs Cortical visual impairment Nevus Polar cataract Horseshoe kidney Respiratory insufficiency Hemivertebrae Relative macrocephaly Abnormality of the genital system Abnormality of coagulation Talipes equinovarus Curly hair Arachnoid cyst Soft skin Periventricular leukomalacia Intestinal atresia Horizontal eyebrow Adrenal insufficiency Ventricular septal defect Narrow mouth Optic nerve coloboma Accessory oral frenulum Abnormal corpus callosum morphology Rotary nystagmus Agenesis of cerebellar vermis Communicating hydrocephalus Central apnea Impaired smooth pursuit Abnormal renal physiology Congenital blindness Acute kidney injury Retinal coloboma External genital hypoplasia Molar tooth sign on MRI Nephronophthisis Abnormal saccadic eye movements Metopic synostosis Cerebellar hypoplasia Noncommunicating hydrocephalus Abnormality of cardiovascular system morphology Cognitive impairment Arthrogryposis multiplex congenita Ventriculomegaly Syndactyly Growth delay Enlarged fossa interpeduncularis Abnormality of ocular smooth pursuit Thickened superior cerebellar peduncle Neonatal breathing dysregulation Brainstem dysplasia Dysgenesis of the cerebellar vermis Episodic tachypnea Hypoplastic male external genitalia Elongated superior cerebellar peduncle Apnea Hyperinsulinemia Talipes Ectopia lentis Small face Radial bowing Hypoplasia of the zygomatic bone Pierre-Robin sequence Aplasia cutis congenita Thickened calvaria Sparse eyelashes Thick upper lip vermilion Coxa valga Amblyopia Osteoarthritis Hypohidrosis Sparse and thin eyebrow Hypotrichosis Recurrent otitis media Hypoplastic ilia Concave nasal ridge Otitis media Posterior vitreous detachment Wide tufts of distal phalanges Small proximal tibial epiphyses Meningeal calcification Irregular distal femoral epiphysis Irregular proximal tibial epiphyses Calcification of falx cerebri Macrodontia of permanent maxillary central incisor Abnormal vitreous humor morphology Hidrotic ectodermal dysplasia Hypoplastic frontal sinuses Anhidrotic ectodermal dysplasia Lens luxation Absent frontal sinuses Juvenile cataract Vitreoretinal degeneration Ulnar bowing Sparse scalp hair Ectodermal dysplasia Decreased fetal movement Sleep apnea Misalignment of teeth Hypoventilation Short humerus Impulsivity Pterygium Limited elbow extension Increased body weight Hyperinsulinemic hypoglycemia Akinesia Poor suck Trigonocephaly Adducted thumb Chorioretinal coloboma Microretrognathia Short palpebral fissure Fetal akinesia sequence Hyperventilation High myopia Arthralgia Thick lower lip vermilion Cerebral calcification Retinal detachment Flat face Genu valgum Platyspondyly Retinal degeneration Arthritis Excessive salivation Glaucoma Tics Intermittent hyperventilation Narrow palm Multiple pterygia Temperature instability Abnormality of the philtrum Hypoplasia of the brainstem Postaxial hand polydactyly Patent foramen ovale Sclerotic vertebral endplates Generalized tonic seizures Profound global developmental delay Facial hypotonia Hip contracture Global brain atrophy Trigeminal neuralgia Cachexia Appendicular hypotonia Plagiocephaly Choreoathetosis Intellectual disability, profound Athetosis 2-3 finger syndactyly Brain atrophy Dyskinesia Profound static encephalopathy Broad clavicles Facial palsy secondary to cranial hyperostosis Abnormality of the nose Sudden death Pectus carinatum Hypertrophic cardiomyopathy Craniofacial hyperostosis Upslanted palpebral fissure Delayed skeletal maturation Abnormal cortical bone morphology Esodeviation Cerebellar atrophy Cardiomyopathy Deviation of finger Diaphyseal thickening Peripheral neuropathy Myopathy Fingernail dysplasia Sclerotic scapulae Triangular face Delayed puberty Capillary hemangioma High iliac wings Sutural cataract Narrow iliac wings Hypoplasia of teeth Delayed closure of the anterior fontanelle Decreased skull ossification Premature loss of teeth Posterior wedging of vertebral bodies Prominent supraorbital ridges Brittle hair Coarse hair Hemangioma Wide anterior fontanel Hyperpigmentation of the skin Large fontanelles Posterior Y-sutural cataract Punctate cataract Curved distal phalanges of the hand Dystonia Cortically dense long tubular bones Severe global developmental delay Pes planus Skeletal dysplasia Posteriorly rotated ears Cerebral atrophy Joint hyperflexibility Forehead hyperpigmentation Narrow chest Carious teeth Intrauterine growth retardation Pulmonic stenosis Abnormality of skin pigmentation Delayed eruption of teeth Wide nose Broad ribs Abnormal cranial nerve morphology Oculomotor apraxia Facial palsy Neoplasm Muscular hypotonia Abnormality of lower lip Hemifacial hypoplasia Short attention span Self-injurious behavior Cupped ear Blindness Language impairment Focal seizures with impairment of consciousness or awareness Short chin Finger clinodactyly Widely spaced teeth Sandal gap Low anterior hairline Hydrocephalus Renal insufficiency Epileptic encephalopathy Abnormal cerebellum morphology Abnormal electroretinogram Renal dysplasia Encephalocele Apraxia Microdontia Postaxial polydactyly Retinal dystrophy Microphthalmia Renal cyst Coloboma Headache Retinopathy Hyperactivity Polydactyly Heterogeneous Dental crowding Febrile seizures Distal amyotrophy Abnormality of mitochondrial metabolism Vomiting Behavioral abnormality Intellectual disability, severe Fever Cutaneous syndactyly Constriction of peripheral visual field Optic nerve hypoplasia Increased intracranial pressure Hyperostosis Inability to walk Hip dysplasia Increased serum lactate Aciduria Peripheral axonal neuropathy Long face Clinodactyly of the 5th finger Anosmia Focal seizures Paralysis Astigmatism Highly arched eyebrow Finger syndactyly Downturned corners of mouth Everted lower lip vermilion Nail dysplasia Short palm Dental malocclusion Abnormality of pelvic girdle bone morphology Microtia Tall stature Overgrowth Aggressive behavior Feeding difficulties in infancy EEG abnormality Increased bone mineral density Small distal femoral epiphysis



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Other signs and symptoms that you may find interesting

Frontal bossing and Holoprosencephaly, related diseases and genetic alterations