Robinow et al. first reported four patients with significant dysmorphism in 1969, describing a rare new dwarfism syndrome characterized by short central limbs, hemivertebrae, characteristic facial dysmorphism and underdevelopment of the reproductive system. The syndrome has a low prevalence, theoretically about 1:500,000, with a male-to-female ratio of about 1:1, and an even lower actual prevalence, as 5-10% of patients are lost to statistics during infancy and childhood due to non-viability. Up to 2002, more than 100 cases of the syndrome were reported in the literature, and a review of the English literature revealed more than 16 new cases from 2002 to 2009. The syndrome can occur in different countries, races and ethnicities, but not at the same rate, and is more common in Turkey, Oman and the Czech Republic, where consanguineous marriages are more common. The syndrome is rarely reported in Asia, and there are two possible reasons for this: one is that it is much less common in Asians; the other is that it is relatively unknown to clinicians, resulting in underdiagnosis and misdiagnosis. The syndrome has characteristic craniomaxillofacial deformities and deserves further study by plastic surgeons, especially craniomaxillofacial surgeons. 1, Robinow syndrome naming and classification Robinow according to the patient’s performance first adopted the name “infant face syndrome (fetal face syndrome)”, and has been continued for many years. Some experts also refer to it as Robinow’s dwarf syndrome; acromegaly with facial and genital anomalies; and interrupted cribriform segment and limb syndrome. The more commonly used name is Robinow syndrome (RS). It is divided into two categories based on genetic differences: autosomal dominant RS (DRS) and autosomal recessive RS (RRS). According to the literature, patients with RRS and DRS are compared, with the former having more severe rib and vertebral deformities. The clinical manifestations of Robinow syndrome vary according to the severity of the disease, mainly focusing on the following aspects: skeletal malformations and internal abnormalities such as the reproductive system; characteristic craniomaxillofacial abnormalities; and mild or moderate short stature due to postnatal growth retardation. 2.1 Characteristic craniomaxillofacial manifestations include abnormally large head (macrocephaly); bulging forehead; short, upturned nose with nostrils facing forward (skyward nose); depressed and low nasal dorsum, saddle nose deformity; wide nasal root; high arched palatal lid; wide, broad or triangular mouth with tent-shaped upper lip and long, inverted V-shaped human middle, which can cause exposure of incisors and gums; upper lip cleft with or without cleft palate (usually not The combination of an orthodontic cleft of the lower lip has also been reported; gingival hyperplasia; microdontia or crowding, root malformation of the mandibular incisors; short lingual tethering or lingual fixation, with the anterior middle of the tongue giving the appearance of a split tongue due to severe lingual tethering; midfacial hypoplasia, micrognathia; occasional frontal midline capillaries and orbital spacing; bilateral protrusion or prolapse of the eyes, which not true protrusion of the eyes into the orbit, but rather protrusion of the eyes due to short development of the lower eyelids; low ears or auricular malformation. 2.2 Characteristic manifestations of the skeletal system include underdevelopment of the middle limbs, short forearm bones (ulna and radius), dislocation of the radial head, anterior and posterior rotation disorders, or tibial deformities, with deformities of the tibia and fibula less than those of the ulna and radius; wrist deformities; shortened, split distal phalanges or fusion of phalanges and carpal bones; small hand deformities with wide thumbs and congenital scoliosis of the 4th or 5th finger; underdevelopment of the thumb, which may present with ectopic thumbs or Splitting, split hand deformity has been reported in the Turkish population; syndactyly; skin folds of the knuckles, loss of the transverse fissure and bucket fingerprint; rib deformity; scoliosis; thoracic vertebral dysplasia (hemivertebral deformity). 2.3 Characteristic manifestations of the reproductive and other systems Male patients suffer from short penile deformities or testes that do not descend into the scrotum (cryptorchidism), etc.; female patients have underdeveloped clitoris and labia majora. Patients with short penis can be treated with testosterone or chorionic gonadotropin to lengthen the penis and to adequately prepare for future phalloplasty. It has been reported that male or female patients with DRS can have normal fertility. However, the fertility of male patients with RRS has not been reported. Al-Ata J et al. found that a significant proportion of patients with RS also had congenital heart disease, including atrial septal defect, ventricular septal defect, aortic stenosis, Tetralogy of Fallot, or severe mitral and tricuspid valve stenosis. 2.4 Short stature Although short stature can be caused by disorders of limb development, many scholars have found that patients with RS have normal levels of growth hormone and insulin-like growth factor-1 secretion, so not all patients with RS are short in stature. Guillen-Navarro E used magnetic resonance imaging to identify a case of mental retardation due to cortical dysgenesis. Although these patients generally suffer from macrocephaly, mental retardation is less common, and about 85% of them have normal intelligence level. In 2000, Afzal AR et al. analyzed the homozygous mapping of Omani, Brazilian and Pakistani populations and published for the first time that the basis of genetic alteration in RRS is ROR2, which is located in a 4-cm long interval on chromosome 9q22 from D9S 1836 to D9S 1803 marker. ROR is a family of complex kinase receptors in vivo that includes two structurally similar members, ROR1 and ROR2, which are associated with the synthesis of 58% of amino acids. Among them, ROR2 includes nine coding sequences responsible for encoding 4092 base pairs and synthesizing a protein containing 943 amino acids. It mainly acts as a complex kinase in the intracellular membrane transport process and is closely related to cell differentiation and maturation. According to the mutation and clinical manifestation, the diseases caused by mutation of human ROR2 gene are divided into two categories: one is short finger malformation B (BDB) and the other is RRS. heterozygous mutation of ROR2 causes BDB malformation; incorrect coding, nonsense coding and shifting error of pure conformation of ROR2 can cause RRS. BDB and RRS have different clinical manifestations, and the main differences are :Insufficient development of the middle or distal segments of the fingers (toes), varying degrees of adhesions of the finger (toe) joints, and usually hypoplastic nails.Lv et al. reported a large Chinese family with various degrees of limb deformities, and the analysis proved the above point and confirmed the association of secondary variants of ROR2 with autosomal dominant short finger deformities. In murine genetic studies, it was found that normal expression of ROR2 is necessary for normal proliferation, maturation, activity and function of chondrocytes, and that it promotes the development of murine limbs, tails, spine and ribs to normal skeletal size. Regina Raz et al. found that the W749X variant in human ROR2 caused BDB, but mice bred for ROR2W749X produced an animal model similar to RRS. animal model. Although the syndrome has been shown to be related to ROR2 in murine models, especially RRS, further experimental studies are needed to prove the exact cause of the two diseases with different manifestations caused by the same genetic variant. 4. The diagnosis and treatment of Robinow syndrome can be confirmed based on typical clinical manifestations, ultrasound examination during pregnancy, radiological examination and genetic examination. For RRS cases, the diagnosis is easier with radiological examination, mainly including spina bifida, rib dysplasia and malformation, short limbs, dental crowding and short fingers, etc. The lower limbs are usually not involved. The diagnosis must be made in conjunction with typical craniofacial and genital manifestations. Clinical treatment is tailored to the patient’s presentation, with severe cases undergoing dozens of surgical procedures over the lifetime of the patient. Examples include: psychotherapy, hormonal therapy, hand surgery, facial contouring, facial organ deformities, treatment of spinal deformities and scoliosis, as well as orthodontic and bracing treatment. A multidisciplinary and comprehensive sequence of treatment is often required, which is a challenge for clinicians, patients, care and hospital conditions, among others. Therefore, from the beginning of the pregnancy examination, the patient’s family needs to cooperate with the obstetrics and gynecology, pediatrics, craniomaxillofacial and plastic surgery, oral and maxillofacial surgery and orthodontics, hand surgery, endocrinology, cardiology and spine surgery to develop a treatment plan to give the patient the best possible assistance.