Schinzel type phocomelia

Disease Overview

Al-Awadi-Raas-Rothschild (AARR) syndrome is a very rare genetic syndrome characterized by skeletal abnormalities. It is a type of skeletal dysplasia. Signs and symptoms of AARR syndrome are present from birth and may include having no fibula (lower bone of the leg) or ulna (bone of the arm), having an underdeveloped (hypoplastic) pelvis, and having differences in the sex structures (genitalia). Females with this syndrome may have an absent uterus, and males may have undescended testes (cryptorchidism).[13683][13684]

Al-Awadi-Raas-Rothschild syndrome is caused by mutations (changes) to the WNT7A gene and is inherited in an autosomal recessive manner. Diagnosis of the syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome. The diagnosis can be confirmed by genetic testing. Treatment for Al-Awadi-Raas-Rothschild syndrome depends on the specific symptoms of each affected person, but may include surgical options.[13683][13684]

Al-Awadi-Raas-Rothschild syndrome is very similar to another syndrome known as Fuhrmann syndrome. The symptoms associated with Fuhrmann syndrome tend to be more mild than those associated with Al-Awadi-Raas-Rothschild syndrome.[13682]

Synonyms

• AARRS
• Ulna and fibula absence of with severe limb deficiency
• Schinzel phocomelia syndrome
• Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
• Absence of ulna and fibula with severe limb deficiency
• Phocomelia, Schinzel type
• Al-Awadi-Raas-Rothschild syndrome