Abnormal facial shape, and Coloboma

Diseases related with Abnormal facial shape and Coloboma

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


Top matches:

Low match CONGENITAL PRIMARY APHAKIA


Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents.

CONGENITAL PRIMARY APHAKIA Is also known as aphakia, congenital primary|cpak|cpa

Related symptoms:

  • Nystagmus
  • Abnormal facial shape
  • Cataract
  • Microphthalmia
  • Glaucoma


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL PRIMARY APHAKIA

Low match TREACHER COLLINS SYNDROME 2; TCS2


Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011).For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Downslanted palpebral fissures
  • Malar flattening


SOURCES: OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 2; TCS2

Low match JOUBERT SYNDROME 22; JBTS22


Related symptoms:

  • Global developmental delay
  • Growth delay
  • Abnormal facial shape
  • Intrauterine growth retardation
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 22; JBTS22

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Other less relevant matches:

Low match JOUBERT SYNDROME 9; JBTS9


Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 9; JBTS9

Low match KAHRIZI SYNDROME; KHRZ


Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009).See also congenital disorder of glycosylation type Iq (CDG1Q ), an allelic disorder with overlapping features.

KAHRIZI SYNDROME; KHRZ Is also known as mental retardation, cataract, coloboma, and kyphosis, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cataract
  • Flexion contracture
  • Motor delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about KAHRIZI SYNDROME; KHRZ

Low match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3


IECEE3 is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and intellectual disability. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by Fassio et al., 2018).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3

Low match MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA


MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA

Low match OTODENTAL SYNDROME


Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

OTODENTAL SYNDROME Is also known as globodontia|otodental dysplasia|chromosome 11q13 deletion syndrome|otodental syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTODENTAL SYNDROME

Low match HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

Low match COLOBOMA OF IRIS


Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular ColobomaA recessive form of ocular coloboma (OMIM ) is caused by mutation in the SALL2 gene (OMIM ) on chromosome 14q11.

COLOBOMA OF IRIS Is also known as coloboma of iris, choroid, and retina|coi|coloboma, uveoretinal

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLOBOMA OF IRIS

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Coloboma

Symptoms // Phenotype % cases
Microphthalmia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Iris coloboma Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Microcornea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Coloboma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Microcephaly Global developmental delay Cleft palate Micrognathia Hearing impairment Nystagmus

Rare Symptoms - Less than 30% cases


Increased intraocular pressure Ptosis Hydrocephalus Facial asymmetry Growth delay Conductive hearing impairment Molar tooth sign on MRI Ventriculomegaly Astigmatism Glaucoma Hypertelorism Agenesis of corpus callosum Retinal dysplasia Anteverted nares Corneal opacity Abnormality of the dentition Short nose Peters anomaly Wide nasal bridge Intellectual disability, severe Hypermetropia Preauricular pit High-frequency hearing impairment Taurodontia Periodontitis Retinal coloboma Macrodontia Pulp stones High-frequency sensorineural hearing impairment Odontoma Lens coloboma Ankylosis Gingival overgrowth Increased number of teeth Carious teeth Mandibulofacial dysostosis Delayed eruption of primary teeth Lower eyelid coloboma Sensorineural hearing impairment Eyelid coloboma Long philtrum Trismus Stenosis of the external auditory canal Glossoptosis Long face Progressive sensorineural hearing impairment Delayed eruption of teeth Hypodontia Agenesis of premolar Ectodermal dysplasia Hydroureter Bilateral sensorineural hearing impairment Hypoplasia of dental enamel Abnormality of dental enamel Progressive hearing impairment Full cheeks Abnormality of the skeletal system Otitis media with effusion Dilatation Scaphocephaly Single median maxillary incisor Cyclopia Proboscis Small posterior fossa Exencephaly Spasticity Hypertension Reduced visual acuity Abnormality of digit Postnatal growth retardation Vesicoureteral reflux Aganglionic megacolon Aortic aneurysm Chorioretinal coloboma Optic nerve coloboma Remnants of the hyaloid vascular system Morning glory anomaly Facial cleft Absent thumb Abnormality of the maxilla Upslanted palpebral fissure Abnormality of canine Abnormality of molar morphology Abnormality of the dental pulp High palate Depressed nasal bridge Macrocephaly Sparse eyebrow Midface retrusion Macrotia Trigonocephaly Broad forehead Synophrys Oral cleft Narrow forehead Hypotelorism Exotropia Holoprosencephaly Deep philtrum Cupped ear Poor eye contact Bicuspid aortic valve Foot polydactyly Bilateral conductive hearing impairment Intrauterine growth retardation Syndactyly Polydactyly Postaxial polydactyly Postaxial hand polydactyly Renal hypoplasia Postaxial foot polydactyly Atresia of the external auditory canal Undetectable electroretinogram Rod-cone dystrophy Hepatosplenomegaly Intellectual disability, moderate Abnormality of the eye Abnormality of eye movement Retinal dystrophy Cerebellar vermis hypoplasia Choanal stenosis Choanal atresia Hepatic fibrosis Corneal neovascularization Abnormality of vision Ectopia lentis Aniridia Posterior embryotoxon Hypoplasia of the iris Sclerocornea Ectopia pupillae Anterior segment developmental abnormality Microtia Anterior synechiae of the anterior chamber Polycoria Posterior synechiae of the anterior chamber Aphakia Aplasia/Hypoplasia affecting the anterior segment of the eye Anterior segment of eye aplasia Downslanted palpebral fissures Malar flattening Encephalocele Flexion contracture Sparse eyelashes Low-set ears Febrile seizures Epileptic encephalopathy Hypsarrhythmia Tetraparesis Spastic tetraparesis CNS hypomyelination Delayed ability to walk Depressivity Encephalopathy Alopecia Abnormality of the pinna Protruding ear Everted lower lip vermilion Hypoplasia of the maxilla Dental crowding Preauricular skin tag Sparse and thin eyebrow Inability to walk Absent speech Motor delay Intellectual disability, progressive Kyphosis Coarse facial features Bulbous nose Thick vermilion border Thick lower lip vermilion Elbow flexion contracture Knee flexion contracture Hemangioma Cerebral atrophy Thoracic kyphosis Capillary hemangioma Generalized hypotonia Cryptorchidism Hyperreflexia Optic atrophy Hypoplasia of the corpus callosum Cerebellar atrophy Optic nerve aplasia



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