Frontal bossing, and Coloboma

Diseases related with Frontal bossing and Coloboma

In the following list you will find some of the most common rare diseases related to Frontal bossing and Coloboma that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

High match GORLIN SYNDROME

Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

Other less relevant matches:

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

DONNAI-BARROW SYNDROME Is also known as syndrome of ocular and facial anomalies, telecanthus and deafness|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|foar syndrome|facio-oculo-acoustico-renal syndrome|diaphragmatic her

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DONNAI-BARROW 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

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Medium match CROUZON DISEASE

Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

CROUZON DISEASE Is also known as crouzon craniofacial dysostosis|craniofacial dysostosis, type i|cfd1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about CROUZON DISEASE

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Iris coloboma

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Posteriorly rotated ears Seizures Microphthalmia Downslanted palpebral fissures Cleft lip Strabismus Hearing impairment Low-set ears Optic atrophy Cataract Sensorineural hearing impairment Cerebellar hypoplasia Proptosis Retinal dystrophy Telecanthus Agenesis of corpus callosum Midface retrusion Hypoplasia of the corpus callosum Ventriculomegaly Epicanthus Heterotopia Visual impairment Dandy-Walker malformation Cryptorchidism

Rare Symptoms - Less than 30% cases

Blindness Abnormal facial shape Prominent forehead Craniosynostosis Retinopathy Muscular hypotonia Lissencephaly Cerebellar vermis hypoplasia Scoliosis Abnormal cortical gyration Brachycephaly Glaucoma Mandibular prognathia Hypoplasia of the brainstem Atresia of the external auditory canal Melanocytic nevus Short stature Growth delay Micrognathia Feeding difficulties Ventricular septal defect Intrauterine growth retardation Retinal detachment Omphalocele Hernia Protruding ear Shallow orbits Congenital diaphragmatic hernia Microcephaly High palate Brachydactyly Wide nasal bridge Anteverted nares Wide anterior fontanel Short nose Hypoplastic male external genitalia Intestinal malrotation Myopia Microcornea Pulmonary hypoplasia Broad forehead Macular hypoplasia Oral cleft Congenital cataract Bilateral cleft lip Depressed nasal bridge Renal dysplasia Partial agenesis of the corpus callosum Encephalocele Severe hydrocephalus Dental malocclusion Retinal atrophy Occipital encephalocele Congenital glaucoma Severe muscular hypotonia Pachygyria Submucous cleft hard palate Optic nerve hypoplasia Abnormality of neuronal migration Congenital contracture Congenital muscular dystrophy Anophthalmia Absent septum pellucidum Areflexia Intellectual disability, profound Episodic tachypnea Noncommunicating hydrocephalus Enlarged fossa interpeduncularis Thickened superior cerebellar peduncle Neonatal breathing dysregulation Brainstem dysplasia Dysgenesis of the cerebellar vermis Elongated superior cerebellar peduncle Cleft palate Abnormality of ocular smooth pursuit Metopic synostosis Abnormal saccadic eye movements Accessory oral frenulum Rotary nystagmus Abnormal corpus callosum morphology Muscle weakness Flexion contracture Hypoplasia of penis Muscular dystrophy Specific learning disability Bifid uvula Polymicrogyria Cleft upper lip Anal atresia Abnormality of the cerebral white matter Corneal opacity Skeletal muscle atrophy Microtia Hydronephrosis Elevated serum creatine phosphokinase Hyporeflexia Dilatation Myopathy Intellectual disability, severe Megalocornea Aplasia/Hypoplasia involving the skeletal musculature Retinal dysplasia Papilledema Amblyopia Narrow palate Conjunctivitis Acanthosis nigricans Torticollis Sleep apnea Increased intracranial pressure Hypopigmented skin patches Arnold-Chiari malformation Trigonocephaly Keratitis Gonadal dysgenesis Syringomyelia Scaphocephaly Turricephaly Choanal atresia Abnormality of the cervical spine Narrow internal auditory canal Multiple suture craniosynostosis Dysgerminoma Abnormal sacrum morphology Abnormality of the nasopharynx Short upper lip Craniofacial dysostosis Abnormality of the skull Lambdoidal craniosynostosis Sagittal craniosynostosis Cloverleaf skull Gonadoblastoma Choanal stenosis Coronal craniosynostosis Dental crowding Primary amenorrhea Abnormality of the optic nerve Agyria Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Meningoencephalocele Posterior fossa cyst Remnants of the hyaloid vascular system Excessive daytime sleepiness Cerebellar cyst Metatarsus valgus Type II lissencephaly Cerebellar dysplasia Muscle fiber splitting Peters anomaly Aqueductal stenosis Buphthalmos Abnormality of the cerebellar vermis Macrogyria Amenorrhea Abnormality of the dentition Convex nasal ridge Hypoplasia of the maxilla Delayed puberty Conductive hearing impairment High forehead Headache Respiratory distress Abnormal lactate dehydrogenase activity Respiratory insufficiency Ptosis Abnormal aldolase level Thick cerebral cortex Agenesis of cerebellar vermis Chorioretinal dysplasia Abnormal renal physiology Bicornuate uterus Central apnea Plantar pits Flat nasal alae Neoplasm Carious teeth Arachnodactyly Cerebral calcification Hypogonadotrophic hypogonadism Hemivertebrae Vertebral fusion Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Palmar pits Dysarthria Absent nasal septal cartilage Behavioral abnormality Hypospadias Abnormal heart morphology Autism Gastroesophageal reflux Low-set, posteriorly rotated ears Postnatal growth retardation Autistic behavior Blepharophimosis Vesicoureteral reflux Cerebral visual impairment Broad eyebrow Motor delay Fusion of the left and right thalami Hypoplasia of the premaxilla Polyhydramnios Prominent nose Congenital sensorineural hearing impairment Preauricular pit Albinism Premature graying of hair Osteopetrosis Blue irides Generalized hypopigmentation Upslanted palpebral fissure Macrotia Thin upper lip vermilion Smooth philtrum Highly arched eyebrow Hypotelorism Alobar holoprosencephaly Holoprosencephaly Flat occiput Median cleft lip Depressed nasal tip Bilateral cleft lip and palate Broad face Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Atrial septal defect Abnormal cardiac septum morphology Optic nerve coloboma Abnormal cerebellum morphology Non-acidotic proximal tubulopathy Ataxia Nystagmus Failure to thrive Renal insufficiency Polydactyly Neonatal hypotonia Camptodactyly Dolichocephaly Abnormality of the foot Postaxial polydactyly Renal cyst Esotropia Infra-orbital crease Postaxial hand polydactyly Apraxia Hepatic fibrosis Oculomotor apraxia Abnormal electroretinogram Patent foramen ovale Chorioretinal coloboma Molar tooth sign on MRI External genital hypoplasia Nephronophthisis Acute kidney injury Congenital blindness Impaired smooth pursuit Low-molecular-weight proteinuria Diaphragmatic eventration Facial asymmetry Proteinuria Joint hypermobility Hepatic failure Bulbous nose Microdontia Cholestasis Microretrognathia Relative macrocephaly Cortical gyral simplification Communicating hydrocephalus Colpocephaly Periventricular gray matter heterotopia Malar flattening Umbilical hernia Broad nasal tip Proximal tubulopathy Progressive visual loss High myopia Abnormal vertebral morphology Aminoaciduria Aplasia/Hypoplasia of the corpus callosum Prominent supraorbital ridges Epiphyseal dysplasia Long nose Severe sensorineural hearing impairment Hypoplasia of the iris Widow's peak Abnormality of the uterus Short sternum Cartilaginous trachea


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