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:

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

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

Other less relevant matches:

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:

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


SOURCES: OMIM MENDELIAN

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

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).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY 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

Medium match ALG9-CDG

ALG9-CDG is a form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis (see this term). The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).

ALG9-CDG Is also known as cdg syndrome type il|cdg-il|carbohydrate deficient glycoprotein syndrome type 1l|cdg il|cdgil|congenital disorder of glycosylation type 1l|cdg1l|mannosyltransferase 7-9 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG9-CDG

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Medium match MARSHALL SYNDROME

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.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

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).

BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME Is also known as zttk multiple congenital anomalies-mental retardation syndrome|zhu-tokita-takenouchi-kim syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Wide nasal bridge Failure to thrive Feeding difficulties Short nose Hypertelorism Optic atrophy Depressed nasal bridge Abnormal facial shape Visual impairment Short stature Thin upper lip vermilion Muscular hypotonia Malar flattening Cataract Epicanthus Scoliosis Anteverted nares Brachycephaly Ptosis Macrocephaly Infantile muscular hypotonia Encephalopathy Hearing impairment Small hand Ataxia Micrognathia Myopia Midface retrusion Cerebellar atrophy Sensorineural hearing impairment Prominent forehead Prominent nose Wide mouth Long philtrum High forehead Delayed speech and language development Cleft palate Smooth philtrum Joint laxity Microcephaly

Rare Symptoms - Less than 30% cases

Spasticity Short philtrum Muscular hypotonia of the trunk Constipation Sparse hair Prominent nasal bridge Absent speech Thin vermilion border Hypoplasia of the maxilla Hypoplasia of the corpus callosum Bifid uvula Poor speech Downslanted palpebral fissures Broad forehead Sparse eyebrow Bulbous nose Craniosynostosis Abnormality of the dentition Short foot Facial asymmetry Hypermetropia Autistic behavior Protruding ear Postnatal growth retardation Autism Growth delay Aplasia cutis congenita Epileptic encephalopathy Kyphosis Absence seizures Inability to walk Abnormality of the foot Congenital cataract Deeply set eye Gait ataxia Delayed skeletal maturation Skeletal dysplasia Abnormality of the skeletal system Tented upper lip vermilion Severe muscular hypotonia Open mouth Brain atrophy Sleep disturbance Global brain atrophy Hip dysplasia Osteopenia Cognitive impairment Severe global developmental delay Developmental regression Hyperreflexia Retinal dystrophy EEG abnormality Wide anterior fontanel Dolichocephaly Mandibular prognathia Proptosis Visual loss Cryptorchidism Hyperactivity Gastroesophageal reflux Everted lower lip vermilion Abnormality of the liver Microtia Synophrys Low-set, posteriorly rotated ears Astigmatism Thick eyebrow Short palm Downturned corners of mouth Self-injurious behavior Highly arched eyebrow Language impairment Focal-onset seizure Febrile seizures Hypoplasia of penis Cupped ear Stereotypy Low anterior hairline Generalized hirsutism Finger clinodactyly Short chin Sandal gap Widely spaced teeth Focal impaired awareness seizure Dental crowding Aggressive behavior Feeding difficulties in infancy Asthma Hydrops fetalis Broad thumb Decreased fetal movement Abnormality of retinal pigmentation Wide intermamillary distance Delayed myelination Ascites Tricuspid regurgitation Hepatic failure Hip dislocation Abnormal cardiac septum morphology Hepatosplenomegaly Decreased liver function Atrial septal defect Edema Lipodystrophy Cutis marmorata Short attention span Vomiting Coarse facial features Retrognathia Abnormality of movement Clinodactyly of the 5th finger Clinodactyly Behavioral abnormality Intellectual disability, severe Pericardial effusion Fever Motor delay Delayed CNS myelination Nonimmune hydrops fetalis Central hypotonia Inverted nipples High, narrow palate Polyphagia Hemifacial hypoplasia Macrodontia Meningeal calcification Abnormality of cardiovascular system morphology Respiratory distress Ventriculomegaly Ventricular septal defect Flexion contracture Small distal femoral epiphysis Small proximal tibial epiphyses Narrow mouth Wide tufts of distal phalanges Irregular distal femoral epiphysis Irregular proximal tibial epiphyses Macrodontia of permanent maxillary central incisor Calcification of falx cerebri Abnormal vitreous humor morphology Hypoplastic frontal sinuses Cerebellar hypoplasia Abnormality of the cerebral white matter Lens luxation Relative macrocephaly Periventricular leukomalacia Soft skin Arachnoid cyst Curly hair Abnormality of coagulation Unilateral renal agenesis Hemivertebrae Arachnodactyly Horseshoe kidney Cerebral visual impairment Exotropia Abnormality of the ribs Narrow forehead Full cheeks Joint hypermobility Absent frontal sinuses Ulnar bowing Noncommunicating hydrocephalus Hypotrichosis Cerebral calcification Otitis media Ectodermal dysplasia Retinal detachment Flat face Genu valgum Platyspondyly Thick lower lip vermilion Arthralgia Glaucoma Hyperhidrosis Depressivity Abnormality of metabolism/homeostasis Abnormality of lower lip Paroxysmal bursts of laughter High myopia Sparse scalp hair Anhidrotic ectodermal dysplasia Pierre-Robin sequence Concave nasal ridge Hypoplastic ilia Thick upper lip vermilion Hypoplasia of the zygomatic bone Radial bowing Vitreoretinopathy Thickened calvaria Osteoarthritis Ectopia lentis Sparse eyelashes Coxa valga Sparse and thin eyebrow Hypohidrosis Amblyopia Recurrent otitis media Hepatomegaly Dysgenesis of the cerebellar vermis Enlarged fossa interpeduncularis Cerebral atrophy Constriction of peripheral visual field Hyperostosis Posteriorly rotated ears Abnormal cranial nerve morphology Broad ribs Abnormal cortical bone morphology Dystonia Anosmia Abnormality of the nose Short neck Craniofacial hyperostosis Intrauterine growth retardation Fingernail dysplasia Diaphyseal thickening Abnormality of pelvic girdle bone morphology Increased intracranial pressure Forehead hyperpigmentation Intellectual disability, profound Facial palsy Paralysis Plagiocephaly Finger syndactyly Choreoathetosis Dental malocclusion Nail dysplasia Cutaneous syndactyly Triangular face Overgrowth Tapered finger Tall stature Dyskinesia Increased bone mineral density Deviation of finger Punctate cataract Failure to thrive in infancy Pulmonic stenosis Delayed eruption of teeth Wide nose Trigeminal neuralgia Abnormality of skin pigmentation 2-3 finger syndactyly Joint hyperflexibility Carious teeth Broad clavicles Narrow chest Sclerotic scapulae Curved distal phalanges of the hand Facial palsy secondary to cranial hyperostosis Cortically dense long tubular bones Pes planus Sclerotic vertebral endplates Esodeviation Posterior wedging of vertebral bodies Decreased skull ossification Posterior Y-sutural cataract Sutural cataract High iliac wings Narrow iliac wings Hypoplasia of teeth Delayed closure of the anterior fontanelle Capillary hemangioma Microdontia Premature loss of teeth Brittle hair Prominent supraorbital ridges Coarse hair Hemangioma Hyperpigmentation of the skin Large fontanelles Cachexia Hip contracture Thickened superior cerebellar peduncle Oculomotor apraxia External genital hypoplasia Molar tooth sign on MRI Hypoplasia of the brainstem Chorioretinal coloboma Patent foramen ovale Abnormal electroretinogram Hepatic fibrosis Acute kidney injury Renal dysplasia Encephalocele Apraxia Postaxial hand polydactyly Dandy-Walker malformation Abnormal cerebellum morphology Nephronophthisis Congenital blindness Postaxial polydactyly Metopic synostosis Neonatal breathing dysregulation Brainstem dysplasia Episodic tachypnea Elongated superior cerebellar peduncle Hypoplastic male external genitalia Abnormality of ocular smooth pursuit Abnormal saccadic eye movements Impaired smooth pursuit Accessory oral frenulum Rotary nystagmus Abnormal corpus callosum morphology Abnormal renal physiology Agenesis of cerebellar vermis Central apnea Optic nerve coloboma Renal cyst Retinopathy Facial hypotonia Syndactyly Pectus carinatum Hypertrophic cardiomyopathy Primary adrenal insufficiency Polar cataract Upslanted palpebral fissure Elevated long chain fatty acids Cardiomyopathy Delayed puberty Headache Peripheral neuropathy Profound static encephalopathy Appendicular hypotonia Generalized tonic seizures Profound global developmental delay Adrenal insufficiency Abnormality of neuronal migration Coloboma Hydrocephalus Camptodactyly Neonatal hypotonia Polydactyly Microphthalmia Renal insufficiency Blindness Abnormality of mitochondrial metabolism Peripheral axonal neuropathy Optic nerve hypoplasia Bilateral single transverse palmar creases Abnormal palate morphology Aciduria Increased serum lactate Distal amyotrophy Long face Intestinal atresia


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