Autosomal dominant Robinow syndrome

Autosomal dominant Robinow syndrome (also known as Robinow syndrome type 1, or fetal face syndrome) is a rare genetic disorder characterized by distinctive facial features resembling a fetal face, skeletal abnormalities, and genital hypoplasia. The condition is caused by heterozygous pathogenic variants in genes involved in the WNT signaling pathway, most commonly WNT5A, but also DVL1, DVL3, and FZD2. The disorder affects multiple body systems, including the skeletal, craniofacial, genitourinary, and cardiovascular systems. Key clinical features include a broad, prominent forehead (frontal bossing), widely spaced eyes (hypertelorism), a short upturned nose, midface hypoplasia, and a wide mouth with a prominent lower lip — collectively giving the face a fetal-like appearance. Skeletal manifestations include mesomelic limb shortening (particularly of the forearms), brachydactyly (short fingers), vertebral segmentation defects including hemivertebrae, and short stature, which is typically mild to moderate. Genital hypoplasia is common, particularly in males, who may present with micropenis and cryptorchidism. Cardiac defects, including pulmonary stenosis and other congenital heart malformations, occur in a subset of patients. The autosomal dominant form is generally considered milder than the autosomal recessive form (caused by ROR2 mutations), particularly with regard to skeletal involvement and short stature. There is no cure for autosomal dominant Robinow syndrome. Management is multidisciplinary and symptom-based, involving orthopedic care for skeletal abnormalities, surgical correction of congenital heart defects when present, urological management for genital anomalies, dental care, and growth monitoring. Genetic counseling is recommended for affected families given the 50% recurrence risk with each pregnancy.

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