Presumed genetic disorder causing short stature, hand
abnormalities, and mild intellectual impairment.
Only about 10 cases have been reported
in the literature. The exact mode of inheritance is unclear but is
postulated to be autosomal dominant. Although the syndrome has features in
common with Coffin-Siris syndrome, it is distinguishable by a milder phenotype and less severe
Features include intrauterine, proportionate
growth retardation, postnatal dwarfism, hypoplastic or aplastic fifth
digits, hypoplastic or aplastic fingernails, and abnormal phalanges. All
affected individuals have facial dysmorphism with a large mouth, pointed
chin, broad nose, and flat malar area. Some patients have mild
intellectual impairment and microcephaly. Radiologic findings include
aplasia, hypoplasia, or fusion of the fifth digit or toe and
brachymesophalangism. One of the affected individuals had cystic adenomatoid
malformation of the lungs, however, this does not appear to be a consistent feature
of the syndrome. Life expectancy is normal.
Careful intraoperative positioning is
needed, but can be difficult. Venous access may be difficult.
Pulse oximetry can be difficult. Patients with mild intellectual impairment
may benefit from sedative premedication. The facial dysmorphism of the
syndrome usually is not associated with difficult airway management.
Coffin-Siris Syndrome: Probably autosomal dominant transmitted
syndrome with developmental delay, hypoplasia of the fifth digit nails and
phalanges, sparse scalp hair, bushy eyebrows, wide mouth, hirsutism, and
prominent or hypertrophied lips.
Senior B: Impaired growth and onychodysplasia: Short children with tiny
toenails. Am J Dis Child
Verloes A, Bonneau D, Guidi O, et al:
Brachymorphism-onychodysplasia-dysphalangism syndrome. J Med Genet