The Dubowitz Syndrome is an uncommon disorder associated with short stature and a variable number of additional findings. It is a condition in the differential diagnosis of the fetal alcohol syndrome.
Inheritance: autosomal recessive
Clinical features:
(1) intrauterine growth retardation with low birthweight
(2) postnatal growth retardation (dwarfism)
(3) microcephaly
(4) eczema-like skin reaction during infancy and early childhood
(5) characteristic facial appearance (see below)
(6) mild to moderate mental retardation
(7) hyperactivity
Facial features:
(1) sloping forehead
(2) broad nasal bridge
(3) small facies
(4) shallow supraorbital ridge
(5) broad nasal tip
(6) short palpebral fissures
(7) telecanthus
(8) variable ptosis
(9) appearance of hypertelorism
(10) epicanthal folds
(11) micrognathia and/or retrognathia
(12) prominent or mildly dysplastic ears
(13) large mouth
There is variation in findings between affected individuals.
Additional findings may include:
(1) attraction to music and vibrations
(2) increased risk for malignancies (ALL, neuroblastoma, malignant lymphoma)
(3) various skeletal anomalies (brachy-clinodactyly of the fifth finger, foot deformities, cutaneous syndactyly of toes, other)
(4) bone marrow hypoplasia
(5) cleft palate
(6) hyperextensible joints
(7) hypoparathyroidism
(8) cardiac anomalies
(9) seizures
(10) muscular hypotonia
(11) ophthalmologic anomalies
(12) dental defects
(13) cryptorchidism and/or hypospadia in males
(14) sacral dimple
