What is Dubowitz Syndrome?
Adapted from the Online Mendelian Inheritance in Man/Johns Hopkins University

Dubowitz Syndrome is a rare syndrome found in approximately less than 200 people around the world.  It is currently described as an autosomal recessive inheritance, but this is currently being challenged by some on-going research.

Below is a general list of characteristics that your child may or may not have, or ever have.  There is a great degree of variance in each one.  We are not medical people and make no claims on the information on these pages.  You still should take your child to see a qualified geneticist if you suspect that he/she has this or any other genetic syndrome.  Please see our page on 'our favourite people' for someone that may be able to help you or email us and we'll try to find someone nearby.  Please also keep in mind that genetics is not exact.  Children inherit other characteristics from their parents that can override any of the descriptors below.

Generally, the child has intrauterine growth retardation and has a low birth weight.  Afterwards, the child is sometimes labeled as failure to thrive.  The head is usually microcephalic and face is small with some elongation with age.  Other facial characteristics can include a shallow supraorbital ridge, asymmetry, micrognathia, dysmorphic features, and a high, sloping forehead.  The ears are also sometimes prominent, low set, and/or dysplastic and the children are prone to otitis media.  The eyes may have very distinct characteristics and may include short palpebral fissures, telecanthus, ptosis, blepharophimosis, epicanthal folds, sparse eyebrows, microphthalmia, hyperopia, megalocornea, iris hypoplasia, iris coloboma, and tapetoretinal degeneration.  The nose can have a broad nasal tip or bridge.  The mouth can have a high arched palate, submucous cleft palate, or velopharyngeal insufficiency.  Teeth can be delayed when coming in, or missing, and are prone to decay or porous.

Abdominal/Gastrointestinal characteristics can include poor feeding, frequent vomiting, chronic diarrhea, and/or gastroesophageal reflux.

In boys, there can be hypospadias, inguinal hernia, or cryptorchidism.

Skeletal issues can be delayed bone age, fifth finger clinodactyly, two/three toe syndactyly, and pes planus.  Some are very prone to eczema or have severe allergies.  There also can be sacral dimple(s), sparse scalp hair, and some hypotonia.  Good access to an Early Intervention program in your area will help guide you through to some therapies, such as speech & language (and this can include learning some basic sign language until speech becomes easier), occupational therapy (for fine motor skills), and physical therapy (for gross motor skills).

Neurologically, 10-15% have moderate to severe mental retardation or developmental delay.  Also described is a tendency to be hyperactive or to have a short attention span.  Speech delay is also common, as is a high pitched or nasal-y voice.

The child's biggest issues seem to be with the immune system.  She/he may be prone to recurrent infections, hypogammaglobulinemia, IgA deficiency, aplastic anemia, acute lymphatic leukemia, lymphoma, and/or neuroblastoma.

contributor: Kelly A.Przylepa, revised 4/4/2003
creation date: John F. Jackson, 6/15/1995
© 1966-2003 Johns Hopkins University