While there are some differences in the types and severity of symptoms that a person can have, people with Dubowitz syndrome share a few common symptoms. Almost everyone has Short stature and slow growth. This can be seen before birth in an ultrasound. It can also be seen after birth. People usually have a Small head (microcephaly), with a small jaw (micrognathia). They also have mild to moderate intellectual disability. People with Dubowitz syndrome have allergies and get infections easily. About half have Eczema (rough, red, itchy patches of skin). The best way to diagnose Dubowitz syndrome is through the facial features. People have a narrow or triangle-shaped face with a high or sloping forehead. The bones around their eyes haven’t fully formed (hypoplastic supraorbital ridges) and their eyes are far apart (hypertelorism). They tend to have droopy eyes (ptosis) that make the eyes look wide and narrow (blepharophimosis). Their ears are large, not fully formed, and set low on their head. Affected individuals also tend to have sparse hair and eyebrows. The roof of their mouth tends to be higher than normal (arched palate), and they may have cleft lip/palate. Hearing problems have not been reported, but Vision problems such as problems seeing things up close (farsightedness) and Cataracts (clouding of the eye lens) have been reported.
People with Dubowitz syndrome can have problems with their nerves, which makes their muscles weak and difficult to move properly (hypotonia). There can also be problems with the skeleton, like curved pinky fingers or toes (clinodactyly). Sometimes two toes can be fused together (syndactyly). Other skeletal problems include scoliosis, and poorly formed or missing ribs. Sometimes parts of the spine (vertebra) will be fused together, making it difficult to move. Many people with Dubowitz syndrome have problems with their immune system and have allergies and frequently get infections. The immune system problems are caused by anemia, which is when there are not enough white (and red) blood cells in the blood to fight infections. Some people have poorly formed reproductive organs (genitalia), like the penis, testes, vagina, and clitoris. In men, the testes sometimes do not descend (cryptorchidism), and the urethra may open underneath the penis instead of at the tip (hypospadias). People with this condition may also have poorly formed digestive systems, lungs, and heart. Their voice tends to be high pitched and hoarse.
It is not possible to predict the level of intellectual disability; however, it is possible for someone to have normal intelligence. Severe Intellectual disability is rare in this condition. Children with Dubowitz syndrome may learn self-help skills later than other children of the same age, such as dressing, eating, and going to the bathroom. They may also have delays in speech development. They may have difficulty learning in school and may have to stay behind a few grades. They may also have behavior problems, like being constantly active and disruptive (hyperactivity). They may have problems focusing and throw temper tantrums. Many children are diagnosed with ADHD. Children may also have problems sleeping and eating. It is important that children with Dubowitz syndrome eat because they are already growing slowly and they need the nutrition to grow.
Dubowitz syndrome increases the chances of having specific cancers. The exact cancer risk is not known. Blood cancers like leukemia, and lymph node cancers (lymphomas) are common. People can also get cancers like nerve cell cancer (neuroblastoma), muscle cancer (myosarcoma), and sarcomas (soft tissue/ bone cancers).