Craniosynostosis The cranial malformations are the most apparent effects of acrocephalosyndactyly. Craniosynostosis occurs, in which the cranial sutures close too soon, though the child's brain is still growing and expanding. Brachycephaly is the common pattern of growth, where the coronal sutures close prematurely, preventing the skull from expanding frontward or backward and causing the brain to expand the skull to the sides and upwards. This results in another common characteristic, a high, prominent forehead with a flat back of the skull. Due to the premature closing of the coronal sutures, increased cranial pressure can develop, leading to mental deficiency. A flat or concave face may develop as a result of deficient growth in the mid-facial bones, leading to a condition known as pseudomandibular prognathism. Other features of acrocephalosyndactyly may include shallow bony orbits and broadly spaced eyes. Low-set ears are also a typical characteristic of branchial arch syndromes. Syndactyly All acrocephalosyndactyly syndromes show some level of limb anomalies, so it can be hard to tell them<unk> . However, the typical hand deformities in patients with<unk>  distinguish it from the other syndromes. The hands in patients with<unk>  always show four common features: # a short thumb with radial deviation # complex syndactyly of the index, long and ring finger # symbrachyphalangism # simple syndactyly of the fourth webspace The deformity of the space between the index finger and the thumb may be variable. Based on this first webspace, we can differentiate three different types of handdeformation: * Type I: Also called a "spade hand". The most common and least severe type of deformation. The thumb shows radial deviation and clinodactyly but is separated from the index finger. The index, long and ring finger are fused together in the distal interphalangeal joints and form a flat palm. During the embryonic stage, the fusion has no effect on the longitudinal growth of these fingers, so they have a normal length. In the fourth webspace, we always see a simple syndactyly, either complete or incomplete. * Type II: Also called a "spoon" or "mitten" hand. This is a more serious anomaly since the thumb is fused to the index finger by simple complete or incomplete syndactyly. Only the distal phalanx of the thumb is not joined in the osseous union with the index finger and has a separate nail. Because the fusion of the digits is at the level of the distal interphalangeal joints, a concave palm is formed. Most of the time, we see complete syndactyly of the fourth webspace. * Type III: Also called the "hoof" or "rosebud" hand. This is the most uncommon but also most severe form of hand deformity in<unk> . There is a solid osseous or cartilaginous fusion of all digits with one long, conjoined nail. The thumb is turned inwards and it is often impossible to tell the fingers<unk> . Usually proper imaging of the hand is very difficult, due to overlap of bones, but physical examination alone is not enough to measure the severity of deformation. Type I ("spade") Type II ("mitten") Type III ("rosebud") First webspace Simple syndactyly Simple syndactyly Complex syndactyly Middle three fingers Side-to-side fusion with flat palm Fusion of fingertops forming a concave palm Tight fusion of all digits with one conjoined nail Fourth webspace Simple and incomplete syndactyly Simple and complete syndactyly Simple and complete syndactyly Dental significance Teeth of a child with<unk>  Common relevant features of acrocephalosyndactyly are a high-arched palate, pseudomandibular prognathism (appearing as mandibular prognathism), a narrow palate and crowding of the teeth. Other signs Omphalocele has been described in two patients with<unk>  by Herman T.E. et al. (USA, 2010) and by Ercoli G. et al. (Argentina, 2014). An omphalocele is a birth defect in which an intestine or other abdominal organs are outside of the body of an infant because of a hole in the bellybutton area. However, the association between omphalocele and<unk>  is not confirmed yet, so additional studies are necessary.
Apert syndrome
Down syndrome
Bardet–Biedl syndrome
Marshall–Smith syndrome
Prader–Willi syndrome
Ayazi syndrome
Smith–Magenis syndrome
13q deletion syndrome