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.
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:
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about CONGENITAL PRIMARY APHAKIATreacher 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:
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:
SOURCES: ORPHANET MESH OMIM MENDELIAN
More info about KAHRIZI SYNDROME; KHRZIECEE3 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:
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda
Related symptoms:
SOURCES: ORPHANET OMIM MENDELIAN
More info about MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIAOtodental 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:
SOURCES: OMIM ORPHANET MENDELIAN
More info about OTODENTAL SYNDROMEHoloprosencephaly associated with mutations in the ZIC2 gene.
Related symptoms:
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).
COLOBOMA OF IRIS Is also known as coloboma of iris, choroid, and retina|coi|coloboma, uveoretinal
Related symptoms:
SOURCES: ORPHANET OMIM MENDELIAN
More info about COLOBOMA OF IRISSymptoms // 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 |
Patients with Abnormal facial shape and Coloboma. may also develop some of the following symptoms:
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Micropenis, related diseases and genetic alterations Wide nasal bridge and Motor delay, related diseases and genetic alterations Depressed nasal bridge and Abdominal pain, related diseases and genetic alterations Visual impairment and Bruising susceptibility, related diseases and genetic alterations Cataract and Headache, related diseases and genetic alterations