Ritscher-Schinzel syndrome 2

Ritscher-Schinzel syndrome 2 is a complex congenital condition that affects multiple body systems and is characterized by distinctive craniofacial features, growth delays, and neurodevelopmental challenges. It is caused by a mutation in the CCDC22 gene and follows an X-linked inheritance pattern, with affected males typically showing more pronounced symptoms. The condition usually presents in early childhood with issues such as global developmental delay and various physical anomalies. Although precise prevalence data is not available, the condition is considered extremely rare.

Individuals with Ritscher-Schinzel syndrome 2 commonly exhibit a spectrum of characteristic features. These include persistent poor speech, upslanted palpebral fissures, a wide anterior fontanel, camptodactyly of the fingers, a protruding tongue, and hypotonia. In addition, children often display a low posterior hairline, relative macrocephaly, postnatal growth retardation, a broad neck, delayed walking, and global developmental delay. Other frequent findings are a short philtrum, clinodactyly of the 5th finger, prominent fingertip pads, hypertelorism, a broad forehead, a broad hallux, and overlapping toes. A subset of affected individuals may also experience cardiac issues such as ventricular septal defect, intellectual disability affecting cognitive and neurological function, Dandy-Walker malformation, cryptorchidism, and glaucoma. Not all individuals experience all features, and severity varies considerably.

Ritscher-Schinzel syndrome 2 is caused by pathogenic variants in the CCDC22 gene. This gene plays a role in important cellular processes, and its disruption leads to the array of structural and developmental anomalies seen in this condition. The condition follows an X-linked inheritance pattern, meaning that males are typically more severely affected, while female carriers may manifest mild symptoms due to variable X-inactivation. Genetic counseling is recommended for families to discuss recurrence risks and options for family planning.

Currently, management of Ritscher-Schinzel syndrome 2 focuses on supportive care and symptom management, with treatment tailored to the individual’s specific needs. This approach typically involves a multidisciplinary team that addresses developmental, cardiac, and other system-specific issues. Regular surveillance is an essential part of long-term care, helping to identify potential complications early. Patients and their families are encouraged to work closely with their healthcare team and consider genetic counseling to explore all available management options.

Ritscher-Schinzel syndrome 2 is a lifelong condition characterized by global developmental delay and a variety of congenital anomalies. Outcomes vary depending on the severity of symptoms, the age at diagnosis, and access to specialized care, with many individuals showing improved quality of life when managed with a multidisciplinary approach. With current standards of care, there is potential for stabilization of symptoms, although the course may range from mild to more severe manifestations. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition for ongoing support and guidance.