Total 26 clinical symptoms reported for Knobloch syndrome
| Calvarial skull defect |
A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.
Synonyms:Cranial defect; Skull defect |
Very frequent |
| Macular degeneration |
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Synonyms:Pigmented macular degeneration |
Very frequent |
| Myopia |
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Synonyms:Close sighted; Near sighted; Near sightedness; Nearsightedness |
Very frequent |
| Occipital encephalocele |
A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.
Synonyms:Brain tissue sticks out through back of skull; Occipital meningoencephalocele; Posterior encephalocele |
Very frequent |
| Retinal detachment |
Separation of the inner layers of the retina (neural retina) from the pigment epithelium.
Synonyms:Detached retina; Retinal detachment |
Very frequent |