Disease Information for Dubowitz syndrome (Clinical Manifestations)

Dubowitz, Dubowitz syndrome, Dubowitz's syndrome, Dubowitz's syndrome (disorder)

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; Below is a general list of characteristics; 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; 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 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

[OMIM/NIH Dubowitz website 2005]

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