Other names: Broad thumb-hallux syndrome or Rubinstein syndrome
Definition: Condition characterized by short stature, moderate to severe learning difficulties, distinctive facial features, and broad thumb and first toes.
Etiology: Autosomal Dominant
Frequency: Uncommon 1:125,000
Clinical features: Broad thumbs and broad first toes, mental disability, small height, bone growth, small head, cryptorchidism in males (absence of one or both testes from the scrotum), unusual facial features (flat red birthmark on forehead, widely spaced eyes, downward slant of eyes, strabismus (cross eyed), droopy eyelids, high arched eyebrows, beaked nose, broad nasal bridge, extra fold of skin on either side of nose, malformed ears, high-arched palate, crowded teeth, small lower jaw), hirsutism (excess hair on body), hyperextensible joints, small tilted pelvis, seizures, slow development of cognitive and motor skills along with low muscle function, unsteady gait, feeding difficulties, respiratory infections, eye infections, heart defects, vertebral abnormalities, G.I. reflux, and kidney problems
Increased risk of noncancerous and cancerous tumors, leukemia, and lymphoma
Treatment: Individuals with RTS have a range of mild to severe symptoms. Most children will benefit from speech therapy. Some children may not be able to speak verbally, and therefore, would may need to learn sign language.
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