Abnormal facial shape, and Coloboma

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

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

SOURCES: ORPHANET OMIM MESH MENDELIAN

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 ).

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

SOURCES: OMIM MENDELIAN

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

SOURCES: OMIM MENDELIAN

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET MESH OMIM MENDELIAN

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 ).

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

SOURCES: OMIM MENDELIAN

MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda

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

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

Holoprosencephaly associated with mutations in the ZIC2 gene.

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

SOURCES: OMIM MESH MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN