Skeletal dysplasia-epilepsy-short stature syndrome

Also known as: Gurrieri-Sammito-Bellussi syndrome

Definition

Orphanet

Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.

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Symptoms

Medical Term Other Names Description
Seizures Epilepsy Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.
Skeletal dysplasia Abnormal skeletal development A general term describing features characterized by abnormal development of bones and connective tissues.
Brachydactyly Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Mandibular prognathia Enlargement of mandible, Mandibular hyperplasia, Increased projection of lower jaw, Prominent lower jaw, Mandible prognathism, Hypertrophy of lower jaw, Mandibular excess, Increased size of lower jaw, Large mandible, Relative mandibular prognathism, Prominent chin, Enlarged mandible, Prognathism, Prognathia, Macromandible, Big lower jaw, Prominent jaw, Increased size of mandible, Mandibular macrognathia, Mandibular prognathism, Increased projection of mandible, Lower jaw hyperplasia, Prominent mandible, Big mandible, Hypertrophy of mandible, Large lower jaw, Lower jaw excess [more] Abnormal prominence of the chin related to increased length of the mandible.
Dental malocclusion Angle class 2 malocclusion, Incorrect relation between upper and lower dental arches, Malocclusion of teeth, Bad bite, Malalignment of upper and lower dental arches, Misalignment of upper and lower dental arches [more] Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.

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