The ectodermal dysplasia syndrome is also known as Ellis-vanCreveld congenital malformation syndrome, congenital calcification disorder heart disease syndrome, ectodermal dysplasia syndrome and other health searches, as autosomal recessive disorders snipe, manifesting as short-limbed dwarf snipe, often with congenital heart disease and mental retardation. The newborn infant appears dwarf state, such as short and thick long bones of the limbs, the distal fingers (toes) are particularly small, and can appear multi-fingers (toes), hair, poor dental development, the whole body long bone epiphysis calcification is incomplete. What are the examination methods for ectodermal dysplasia of cartilage? 1, endocrine examination Endocrine function test can reflect the functional status of endocrine glands, divided into stimulation or excitation test and inhibition test. The stimulation test observes whether the response of the stimulated gland is normal or not, while the inhibition test is to see whether the gland with elevated function can be inhibited. The ability to stimulate and be inhibited indicates that there is normal positive and negative feedback function. 2, chromosome analysis Commonly used normal and abnormal chromosome nomenclature, abbreviations and symbols (ISCN, 1978) are as follows: A to G into chromosome groups; 1 to 22 autosomal serial numbers; X, Y sex chromosomes; used to separate chimeric different cell lines, two when placed before the autosomal number or group of symbols, indicates the increase or loss of the entire chromosome; placed after the chromosome wall, structure or other symbols When placed after a chromosome wall, structure or other symbol, it indicates an increase or decrease in chromosome length; ? when the chromosome structure is unknown or in doubt,? should be placed before a chromosome group or number; indicates a break; breaks and joins;; separates chromosomes and chromosomal regions from several chromosomal structural rearrangements ace no thylakoid break; cen thylakoid; chi heterologous chimera; ct chromosome monomer; del deletion; der derived chromosome; dic double thylakoid; dup duplication; end end replication; g cleft; h sub constriction; i isobranch chromosome ;ins insertion;inv inversion;invins inversion insertion;inv(p-q+)/inv(p+q-) inter-arm inversion;mar marker chromosome;mat from mother;mos chimerism (homologous);p chromosome short arm;pat from father;ph’Philadelphia chromosome;q chromosome long arm;r loop chromosome;rcp reciprocal translocation;rea rearrangement. rec recombinant chromosome;rob robertson translocation;s follower;sce sister chromatid interchange;t translocation;tan consecutive (tandem) translocation;ter end;pter short arm end;qter long arm end;tri tri triple attachment. 3.Spinal examination The spinal examination is usually a combination of visualization, palpation and percussion. Its main contents include the curvature of the spine, the presence of deformity, the mobility of the spine and the presence of pressure pain and percussion pain. 4, general radiography X-rays are mainly used to detect skeletal lesions, but they are also useful for detecting soft tissue lesions. Common examples are chest X-rays, which are used to diagnose lung diseases such as pneumonia, lung cancer or emphysema, and abdominal X-rays, which are used to detect intestinal obstruction, free gas (freeair, due to visceral perforation) and free fluid (freefluid). The use of X-rays for diagnosis is controversial in some cases, such as stones (which have little to no blocking effect on X-rays) or kidney stones (which are generally, but not always, visible).