Pediatric craniofacial malformation syndrome (Hallermann-Streiffsyndrome) is also known as H-S syndrome, mandibular, ocular, facial, and craniofacial hypoplasia syndrome, mandibular, ocular, facial, and craniofacial hypoplasia, and sparse hair syndrome (dyscephaliaoculomandibularis- hypotrichosissyndrome), cephalofacial mandibular and ocular dysmorphism syndrome, congenital cataractacongenitahypotrichosissyndrome, congenital cataractacongenitahypotrichosissyndrome, Ullrieh-Fremety-Dohna syndrome, Frangois syndrome, Audry syndrome type I, Fremery-Dohna syndrome, etc. The syndrome is characterized by cephalofacial deformities, congenital cataracts, and hair thinning. The syndrome is often associated with other malformations, such as spinal deformities, osteoporosis, homogeneous dwarfism, and mental retardation. Etiology: (I) Pathogenesis The etiology of this syndrome is not known. (ii) Pathogenesis: Craniofacial malformation syndrome may be autosomal recessive (a person must have two copies of an abnormal allele to develop an autosomal recessive disorder), associated with maternal use of certain teratogenic substances or viral infections during pregnancy, or due to fetal developmental disorders of the frontal lobes in the fifth to seventh week. Diagnosis: This syndrome must be differentiated from Cretinism, in which serum T3, T4, and TSH are in the normal range. It must also be differentiated from childhood-type progeria syndrome. The child’s mental retardation is common to both sporadic and endemic Cretinism, while endemic Cretinism is more severe and can be idiotic. Children with endemic cretinism are more severely underdeveloped and can be idiotic. They grow up with low intelligence, dull expressions, and slow reactions. They are short in stature, with a long upper body and short lower body (legs), and have a disproportionate body shape. Motor development is also delayed. The hair is sparse, coarse, brittle and lusterless. Special facial features may be seen: low nasal root, widened eye spacing, small eyelids, sparse and light-colored eyebrows, thick lips, and a large, wide, thick tongue that often sticks out between the lips. Children with pediatric progeria generally behave in a generally normal manner during the first few months of life. However, if we look back to the first birth, there is mostly hard swelling, mild facial cyanosis, and a more pointed nose. Growth and development are slightly poor during the first year and markedly slow from the second year onwards, with gradual onset of typical facial features, hair loss, loss of subcutaneous fat, abnormal posture, joint stiffness, and changes in skin and bone, but normal development of intellectual and motor functions. The characteristic changes are: the length and weight are significantly lower than normal, and around 10 years old, the weight is still as long as that of a 4-5 years old child, and the weight is more obvious than the length reduction; the subcutaneous fat gradually becomes thinner, the whole body is thin, and the fat layer of the cheeks also disappears, only the subcutaneous fat of the upper part of the pubic bone remains; because the facial bones and mandibles are particularly small, the head and forehead are relatively large. The eyes are small, so both eyes protrude, and the nose is prominent and pointed; the ears are often deformed, with both ears erected forward and lacking earlobes; the lips are thin and resemble a bird’s face; hair loss begins at the occipital area and is almost complete by the age of 3 to 5 years, and the eyebrows and eyelashes can also be lost; the scalp veins are angry; the development of both the milk teeth and permanent teeth is delayed, and they fall out early, and the teeth are malformed. The limbs are normally proportioned to the trunk, the clavicle is underdeveloped and particularly short, the joints are relatively thick and rigid, the fingers are flexed, the finger and toe nails are often atrophied, and the terminal phalanges are very short. The skin is thin and dry, with wrinkles and brown age spots. The lower abdomen, proximal thighs and buttocks are hard and swollen. The superficial blood vessels of the extremities are thick and exposed, especially the radial artery and dorsal veins of the hands are the most obvious. The voice is sharp and thin. Blood pressure rises significantly after the age of 5. The heart gradually enlarges and sometimes angina pectoris, myocardial infarction or cerebrovascular accidents occur. Acute abdominal pain due to kidney stones may also occur. The gait is like that of an elderly person, with the feet dragging on the ground when walking and not being able to be elevated.