Biomaterial Database

[Short stature, mental retardation, type I preaxial polydactyly with colobomatous abnormalities: a new syndrome]. 1987

R A Pfeiffer, and U Mayer

Institut für Humangenetik und Anthropologie der Universität, Erlangen-Nürnberg.

A syndrome which consists of growth retardation, mental deficiency, preaxial polydactyly and colobomatous anomalies was observed in two sibs and might have been transmitted by an autosomal recessive mutation. In the brother there is an incomplete coloboma of the optic nerve head, in the sister a coloboma of the iris, optic nerve head, choroid, and retina. Polydactyly is unilateral. Similar observations have been quoted but no identical case seems to have been published.

UI	MeSH Term	Description	Entries
D007498	Iris	The most anterior portion of the uveal layer, separating the anterior chamber from the posterior. It consists of two layers - the stroma and the pigmented epithelium. Color of the iris depends on the amount of melanin in the stroma on reflection from the pigmented epithelium.
D008297	Male		Males
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D009898	Optic Disk	The portion of the optic nerve seen in the fundus with the ophthalmoscope. It is formed by the meeting of all the retinal ganglion cell axons as they enter the optic nerve.	Blind Spot,Optic Disc,Optic Nerve Head,Optic Papilla,Blind Spots,Disc, Optic,Disk, Optic,Head, Optic Nerve,Nerve Head, Optic,Optic Discs,Optic Disks,Optic Nerve Heads,Optic Papillas,Papilla, Optic,Papillas, Optic,Spot, Blind
D012160	Retina	The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent.	Ora Serrata
D002829	Choroid	The thin, highly vascular membrane covering most of the posterior of the eye between the RETINA and SCLERA.	Choriocapillaris,Haller Layer,Haller's Layer,Sattler Layer,Sattler's Layer,Choroids
D003103	Coloboma	Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.	Coloboma Of Iris, Choroid, And Retina,Coloboma, Ocular,Coloboma, Uveoretinal,Ocular Coloboma,Uveoretinal Coloboma,Colobomas,Colobomas, Ocular,Colobomas, Uveoretinal,Ocular Colobomas,Uveoretinal Colobomas
D004392	Dwarfism	A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.	Nanism
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man