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Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive congenital disorder characterized by severe mental retardation, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate.
The fissure may be increased in vertical height in Graves' disease, which is manifested as Dalrymple's sign. It is seen in disorders such as cri-du-chat syndrome. In animal studies using four times the therapeutic concentration of the ophthalmic solution latanoprost, the size of the palpebral fissure can be increased. The condition is reversible.
Al-Gazali-Donnai-Mueller syndrome, also known as Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features syndrome [1] is a rare and deadly genetic disorder which is characterized by Hirschsprung's disease, nail and distal limb hypoplasia, flat facies, upslanting palpebral fissures, narrow philtrum, high palate, micrognathia and low-set ears.
Viljoen–Kallis–Voges syndrome, also known as microcephaly-brachydactyly-kyphoscoliosis syndrome, is a very rare genetic disorder which is characterized by severe intellectual disabilities, microcephaly, low height/short stature, brachydactyly type D, flat occiput, down-slanting palpebral fissures, low-set prominent ears, a broad nose, and kyphoscoliosis.
Downslanting palpebral fissures Other features may include loose skin, thin deep-set nails, thin hair, short ribs, limited elbow and knee extension, camptodactyly , and a coarse, low-pitched voice. Delayed development of motor skills such as sitting, standing, and walking are commonly exhibited in early childhood.
Facial features (3/5) = 1 (dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia) Skin striae (stretch marks) = 1; Myopia > 3 diopters = 1; Mitral valve prolapse = 1; The thumb sign (Steinberg's sign) is elicited by asking the person to flex the thumb as far as possible and then close the fingers over it.
Downslanting palpebral fissures- the outer corners of the eyes point downwards; Ocular hypertelorism- unusually wide-set eyes; Exophthalmos- a protruding eyeball; Corneal clouding- clouding of the front-most part of the eye; Hypoplastic nasal alae- narrowing of the nostrils that can decrease the width of the nasal base
Burdach's fissure: connects the brain's insula and the inner surface of the operculum. Calcarine sulcus or Calcerine fissure: extends from the occipital of the cerebrum to the occipital fissure. Callosomarginal fissure: found in the medial surface of the cerebrum. Central sulcus or Rolando's fissure: separates the brain's frontal and parietal ...