Frontal bossing, and Iris coloboma

Diseases related with Frontal bossing and Iris coloboma

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

Top matches:

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

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

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

Other less relevant matches:

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

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.

TREACHER-COLLINS SYNDROME Is also known as franceschetti-klein syndrome|mandibulofacial dysostosis without limb anomalies

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about TREACHER-COLLINS SYNDROME

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Smith-Kingsmore syndrome is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015).

MACROCEPHALY-INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER-SMALL THORAX SYNDROME Is also known as minds syndrome|macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism|macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome|smith-kingsmore syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER-SMALL THORAX SYNDROME

High match MONOSOMY 13Q14

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

High 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

Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.

ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as aeg syndrome|anophthalmia, clinical, with associated anomalies|anophthalmia-esophageal-genital syndrome|microphthalmia and esophageal atresia syndrome|mcops3|syndromic microphthalmia type 3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Iris coloboma

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Midface retrusion

Uncommon Symptoms - Between 30% and 50% cases

Wide nasal bridge

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Hydrocephalus

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Coloboma Downslanted palpebral fissures Macrocephaly Sensorineural hearing impairment Hearing impairment Microphthalmia Generalized hypotonia Hypoplasia of the corpus callosum Wide anterior fontanel Short nose Hernia High palate Microcephaly Low-set ears Short stature Epicanthus Agenesis of corpus callosum Posteriorly rotated ears Broad forehead Muscular hypotonia Ventricular septal defect Cleft lip Prominent forehead Patent ductus arteriosus Bulbous nose Wide mouth Ventriculomegaly Brachydactyly Long philtrum High forehead Holoprosencephaly Scoliosis Heterotopia Brachycephaly Thin upper lip vermilion Micrognathia

Rare Symptoms - Less than 30% cases

Omphalocele Hypotelorism Malar flattening Depressed nasal bridge Partial agenesis of the corpus callosum Dilatation Proptosis Umbilical hernia Abnormal vertebral morphology Trigonocephaly Failure to thrive Micropenis Open mouth Hydronephrosis Deeply set eye Clinodactyly of the 5th finger Intrauterine growth retardation Narrow internal auditory canal Growth delay Ptosis Abnormal heart morphology Tracheoesophageal fistula Visual impairment Single transverse palmar crease Patent foramen ovale Choanal atresia Hypoplasia of penis Hypoplasia of the maxilla Conductive hearing impairment Abnormality of cardiovascular system morphology Abnormality of the dentition Respiratory insufficiency Dental malocclusion Cognitive impairment Smooth philtrum Mandibular prognathia Joint hypermobility Optic atrophy Pulmonary hypoplasia Intestinal malrotation Motor delay Congenital diaphragmatic hernia Vertebral fusion Melanocytic nevus Hemivertebrae Hypogonadotrophic hypogonadism Abnormal cardiac septum morphology Macular hypoplasia Telecanthus Cerebellar hypoplasia Protruding ear Rhizomelia Everted lower lip vermilion Intellectual disability, severe Clinodactyly Anterior pituitary hypoplasia Butterfly vertebrae Muscular hypotonia of the trunk Prominent nasal bridge Finger syndactyly Hip dislocation Dolichocephaly Thin vermilion border Thick eyebrow Hypoglycemia Short neck Periventricular leukomalacia Cervical hemivertebrae Webbed neck Hypothyroidism Finger clinodactyly Abnormal dermatoglyphics Deep philtrum Pneumonia Thrombocytopenia Gonadotropin deficiency Supernumerary nipple Supernumerary ribs Delayed speech and language development Cafe-au-lait spot Breech presentation Short chin Large for gestational age Curly hair IgA deficiency Arachnoid cyst Megalencephaly Diastasis recti Preeclampsia Glandular hypospadias Limb undergrowth Asthma Deep palmar crease Vertebral hypoplasia Hypothalamic hamartoma Perisylvian polymicrogyria Deep plantar creases Multiple impacted teeth Intestinal polyp Renal cyst Absent gallbladder Short distal phalanx of finger Polymicrogyria Progressive macrocephaly Narrow chest EEG abnormality Short proximal phalanx of finger 11 pairs of ribs Rib fusion Sagittal craniosynostosis Chorioretinal coloboma Optic nerve hypoplasia Abnormality of the genital system Spastic tetraplegia Specific learning disability Growth hormone deficiency Shallow orbits Papilledema Turricephaly Abnormality of the skull Coronal craniosynostosis Choanal stenosis Gonadoblastoma Cloverleaf skull Lambdoidal craniosynostosis Syringomyelia Craniofacial dysostosis Abnormality of the cervical spine Short upper lip Abnormality of the nasopharynx Abnormal sacrum morphology Dysgerminoma Multiple suture craniosynostosis Delayed eruption of teeth Cartilaginous trachea Congenital cataract Postnatal growth retardation Facial palsy Hypospadias Visual loss Anophthalmia Gonadal dysgenesis Absent septum pellucidum Delayed puberty Aplasia/Hypoplasia of the thumb Hypogonadism Abnormality of the gastrointestinal tract Thickened helices Retinoblastoma Missing ribs Sclerocornea Esophageal atresia Anteverted ears Increased number of teeth Leukocoria Respiratory distress Headache Craniosynostosis Convex nasal ridge Keratitis Amenorrhea Primary amenorrhea Dental crowding Amblyopia Narrow palate Conjunctivitis Acanthosis nigricans Torticollis Sleep apnea Increased intracranial pressure Spastic diplegia Hypopigmented skin patches Arnold-Chiari malformation Atresia of the external auditory canal Scaphocephaly Abnormality of the middle ear Feeding difficulties Fusion of the left and right thalami Bilateral 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 Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Flat nasal alae Flat occiput Myopia Proteinuria Retinal dystrophy Retinal detachment Broad nasal tip Progressive visual loss High myopia Aminoaciduria Aplasia/Hypoplasia of the corpus callosum Prominent supraorbital ridges Epiphyseal dysplasia Long nose Severe sensorineural hearing impairment Hypoplasia of the iris Median cleft lip Prominent nose Abnormality of the uterus Dandy-Walker malformation Neoplasm Glaucoma Carious teeth Arachnodactyly Cerebral calcification Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Palmar pits Plantar pits Atrial septal defect Polyhydramnios Facial asymmetry Hepatic failure Microdontia Highly arched eyebrow Cholestasis Microretrognathia Lissencephaly Relative macrocephaly Cortical gyral simplification Communicating hydrocephalus Abnormal cortical gyration Colpocephaly Severe hydrocephalus Periventricular gray matter heterotopia Anteverted nares Upslanted palpebral fissure Macrotia Oral cleft Widow's peak Bicornuate uterus Ankyloglossia Toe syndactyly Branchial fistula Short face Talipes equinovarus Behavioral abnormality Depressivity Inguinal hernia Hyperactivity Autism Anxiety Aggressive behavior Joint laxity Intellectual disability, moderate Autistic behavior Attention deficit hyperactivity disorder Joint hyperflexibility Abnormality of bone mineral density Short foot Sleep disturbance Vesicoureteral reflux Coarctation of aorta Broad thumb Schizophrenia Hand polydactyly Broad hallux High hypermetropia Transposition of the great arteries Foot polydactyly Truncus arteriosus Broad hallux phalanx Interrupted aortic arch Multiple enchondromatosis Abnormality of the adrenal glands Short sternum Low anterior hairline Proximal tubulopathy Diaphragmatic eventration Infra-orbital crease Low-molecular-weight proteinuria Non-acidotic proximal tubulopathy Cleft palate Narrow mouth Retrognathia Skeletal dysplasia Microtia Cleft upper lip Encephalocele Preauricular skin tag Abnormality of the hair Abnormality of dental enamel Thyroid hypoplasia Scrotal hypoplasia Reduced number of teeth Abnormality of dental morphology Open bite Dysphasia Abnormality of the vertebral column Facial cleft Glossoptosis Absent eyelashes Blepharospasm Hypoplasia of the zygomatic bone Eyelid coloboma Rectovaginal fistula Hypoplasia of the thymus Proximal esophageal atresia


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