Some patients with the Brachmann-de Lange syndrome (BDLS) are less severely affected than those with the classic form of the disease. Diagnosis is often delayed or the patient may be misdiagnosed.


Differences from the classic form of BDLS:

(1) absence of major limb anomalies (often have minor anomalies such as those affecting finger and toes)

(2) absence of significant behavioral disturbances (often have mild behavioral problems)

(3) absence of seizures

(4) absence of significant problems with hearing or vision

(5) absence of serious medical problems

(6) absence of significant cognitive impairment (borderline normal or mild impairment)


Findings in patients with the mild expression of BDLS:

(1) normal weight and body length at birth

(2) often have feeding problems during infancy associated with a failure to thrive

(3) subtle craniofacial abnormalities that may normalize with age (especially in post-pubertal males, see previous section)

(4) delayed motor development at 1 year of age but independently ambulating by age 2 years of age

(5) expressive language delayed but usually present by 2 years of age


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