Tibial arch in the ball of the big toe

Introduction Special appearance of patients with Down syndrome: wide eye distance, upper eye angle of both eyes, internal suede, low ear position, low nose bridge, wide tongue, often half of the mouth or tongue protruding out of the mouth, tongue groove cracking depth And more, the palm is thick and short and thick, the short finger is often bent inward or has two knuckles, 40% of the children have a penis. In the sacral pattern, the sacral side of the ball area of the big toe is arched, the distance between the big toe and the second toe is large, the joint ligament is loose or the muscle tension is low. The incidence of Down's syndrome is related to the age of maternal pregnancy. It is an abnormality of chromosome 21, and there are three types of trisomy, translocation and chimerism. High maternal age, egg aging is an important reason for the absence of separation.

Cause

(1) Causes of the disease

The incidence of Down's syndrome is related to the age of maternal pregnancy. It is an abnormality of chromosome 21, and there are three types of trisomy, translocation and chimerism. High maternal age, egg aging is an important reason for the absence of separation.

(two) pathogenesis

The trisomy can be isolated from chromosome 21 of the meiotic phase of the parental germ cell. The mechanism of its occurrence is due to the fact that the germ cells of the parent (mostly the mother) are not separated when the meiosis occurs. The older the pregnant woman, the more likely it is that Down syndrome will occur.

In a family study of normal diploid parents with 21-trisomy, it was found that the chimeric 21-trisomy cell line in parental germ cells and the single parental dimer of maternal chromosome 21 also occurred in 21-trisomy. the reason. The translocation type can be inherited by one of the parents for the 21st chromosome balance translocation carrier. Except for chromosomal translocation, the karyotypes of peripheral blood lymphocytes in both parents were mostly normal. The key part of chromosome 21 that produces the phenotypic characteristics of Down's syndrome is 21q22.1~q22.2, and the 21 parts of the trisomy that do not include this zone do not present Down syndrome.

an examination

Seven characteristics of Down's syndrome

(1) Mental retardation: mild to moderate, mostly moderate mental retardation, and its intelligence gradually decreases with age.

(2) Language developmental disorder: The average age at which children begin to learn to speak is 4-6 years old, 95% have pronunciation defects, ambiguous ambiguity, stuttering, low voice; more than 1/3 have abnormal temperament, or even Explosive pronunciation.

(3) Behavioral disorders: Most of the temperament is mild, often smirking, like to imitate and repeat some simple movements, can carry out simple labor, a few patients are irritating, willful, hyperactive, and even destroying aggressive behavior, while others show cringe Tendency, accompanied by a posture of nervousness.

(4) Exercise retardation: The motor function of children may not be different from normal children of the same age during the period after birth, but the difference increases with age. The development of exercise in different patients also varies greatly. Congenital patients can perform simple exercises, such as dressing, eating, etc., but the movements are clumsy, uncoordinated, and gait is unstable.

(5) Growth and development disorders: The maternal gestation period of patients with congenital stupidity is shorter, with an average of 262-272 days. The height at birth is shorter than normal newborns by l~3cm, the head circumference is basically normal, the double top diameter is in the normal range, the anteroposterior diameter is relatively short, and the occiput is flat. Most are short-headed. The front and rear squats and the forehead are wide, and the closure is late, often showing a third sac (the sagittal suture widening above the posterior iliac crest). The child with this disease has a deep sleep after a few days of birth. Sucking and swallowing are very slow, or even impossible at all, so it is very difficult to wake up and feed. 80% of children have a generally low muscle tone.

(6) Special appearance: wide eye distance, upper eye angle of both eyes, inner suede, low ear position, low nose bridge, wide tongue, often half of the mouth or tongue protruding out of the mouth, deep and wide The palm is thick and short and thick, and the short finger is often bent inward or has two knuckles. 40% of the children have a penis. In the sacral pattern, the sacral side of the ball area of the big toe is arched, the distance between the big toe and the second toe is large, the joint ligament is loose or the muscle tension is low.

(7) About 1/2 of the cases are complicated by congenital heart disease, infectious diseases and leukemia.

Differential diagnosis

What are the symptoms of the sacral arch line in the sacral nucleus?

The disease should be differentiated from congenital hypothyroidism. The latter can have symptoms such as lethargy, crying hoarseness, feeding difficulties, abdominal distension, constipation after birth. The tongue is large and thick, but there is no special face of this disease. Serum TSH, T4 and karyotype analysis can be detected for identification.

The seven characteristics of Down's syndrome:

(1) Mental retardation: mild to moderate, mostly moderate mental retardation, and its intelligence gradually decreases with age.

(2) Language developmental disorder: The average age at which children begin to learn to speak is 4-6 years old, 95% have pronunciation defects, ambiguous ambiguity, stuttering, low voice; more than 1/3 have abnormal temperament, or even Explosive pronunciation.

(3) Behavioral disorders: Most of the temperament is mild, often smirking, like to imitate and repeat some simple movements, can carry out simple labor, a few patients are irritating, willful, hyperactive, and even destroying aggressive behavior, while others show cringe Tendency, accompanied by a posture of nervousness.

(4) Exercise retardation: The motor function of children may not be different from normal children of the same age during the period after birth, but the difference increases with age. The development of exercise in different patients also varies greatly. Congenital patients can perform simple exercises, such as dressing, eating, etc., but the movements are clumsy, uncoordinated, and gait is unstable.

(5) Growth and development disorders: The maternal gestation period of patients with congenital stupidity is shorter, with an average of 262-272 days. The height at birth is shorter than normal newborns by l~3cm, the head circumference is basically normal, the double top diameter is in the normal range, the anteroposterior diameter is relatively short, and the occiput is flat. Most are short-headed. The front and rear squats and the forehead are wide, and the closure is late, often showing a third sac (the sagittal suture widening above the posterior iliac crest). The child with this disease has a deep sleep after a few days of birth. Sucking and swallowing are very slow, or even impossible at all, so it is very difficult to wake up and feed. 80% of children have a generally low muscle tone.

(6) Special appearance: wide eye distance, upper eye angle of both eyes, inner suede, low ear position, low nose bridge, wide tongue, often half of the mouth or tongue protruding out of the mouth, deep and wide The palm is thick and short and thick, and the short finger is often bent inward or has two knuckles. 40% of the children have a penis. In the sacral pattern, the sacral side of the ball area of the big toe is arched, the distance between the big toe and the second toe is large, the joint ligament is loose or the muscle tension is low.

(7) About 1/2 of the cases are complicated by congenital heart disease, infectious diseases and leukemia.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.