[…] common cause of historically Roberts syndrome TAR syndrome 4 Grebe syndrome Holt-Oram syndrome DK phocomelia syndrome/von Voss-Cherstvoy syndrome Schinzel-phocomelia syndrome 5 Antenatal ultrasound Classically with upper limb involvement, the hands are present [radiopaedia.org]

Symptoms of Schinzel type phocomelia 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). [rarediseases.info.nih.gov]

• Cryptorchidism

  Females with this syndrome may have an absent uterus, and males may have undescended testes (cryptorchidism). Schinzel type phocomelia is caused by genetic changes (changes) to the WNT7A gene and is inherited in an autosomal recessive manner. [rarediseases.info.nih.gov]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]