Only more than 20 females have been diagnosed and described in medical books across the world who is suffering this extremely rare condition. It seems that only females are the sufferers with the disease. The condition was first described in 1963.

Signs and Symptoms

• Microcephaly or small head is one of the characteristic features which can be present in patients.
• Micrognathia or small sized jaw along with round face is also a common finding among the patients.
• In some patients it has been reported that ears are low set and sometimes also malformed.
• Eyes in these persons are upslanting and reveal palpebral fissures, hypertelorism, and strabismus and many other deformities or complications may be there along with them.
• Nose of these patients is usually broad with depressed nasal bridge and epicanthus which is clearly visible.
• Patients may have cleft palate with high arched palate and some may have several dental abnormalities. Few patients also have thick, furrowed and everted lips.
• Patients might present with features like webbed neck.
• Patients may present with many deformities in the extremities like small hand and feets with overlapping toes, camptodactyly, Clinodactyly, talipes equinovarus, and metatarsus varus. Patients may suffer with scoliosis which might affect spine muscles and can lead to hypotonia of spine muscles.
• Patients will suffer many cardiac abnormalities like patent ductus arteriosus, atrial septal defect, ventricular septal defect, and aortic dextroposition.
• Usually the patient will be suffering from abnormal lobulation of the lungs leading to neonatal asphyxia.
• Usually the patients will have abnormal small uterus with kidney hypoplasia.
• This syndrome leads to mental, growth, and motor retardation. There may be delayed puberty. Behavior and performance is affected by Opisthotonoid posture. Patients are generally having below average IQ that is between 50 and 80 points.