The condition is believed to be autosomal recessive in nature, which means that if both parents are carrier of the disease i.e. both have defective gene as a recessive trait, then the chances of the disease transmitting to their children is 25 %. If four babies are there then only one of them will be the sufferer of the disease while the two of the babies will be carriers of the disease, while one of the babies will neither be sufferer nor the carrier. The disease is described recently in 1980’s and most of the infants who are born with the condition survived less than one year. The important characteristic of the disease presentation will be growth defect in both prenatal and post natal periods, defective growth of skull bones, partial absence of clavicles and some other typical facial features.
Diagnosis is mainly based on clinical features and the relevant clinical history of the parents. Some investigations are done to confirm the diagnosis and to deal with the complications.
Treatment is mainly symptomatic and generally includes life saving measures, looking at the severity of the disease
Parental counseling is also done so as to ensure a proper screening of the fetus during the further pregnancies.