28 Coffin-Siris Syndrome
Coffin-Siris Syndrome 659
Fifth digit syndrome
Mental retardation, sparse scalp hair, coarse facies, anteverted nares, absent nail and terminal phalanx of the 5th finger, hypertrichosis
Frequency: Rare (more than 50 published cases);
female-to-male ratio 4:1.
Genetics
Autosomal dominant (OMIM 135900); a few familial cases of affected sibs; suggested recurrence risk 10%.
Clinical Features
• Intrauterine growth retardation, short stature
• Mental retardation (100%), hypotonia (100%)
• Hypertrichosis, sparse scalp hair
• Coarse facies,thick eyebrows,hypotelorism,ptosis
• Flat nasal bridge, broad nose, anteverted nostrils, wide nasal tip, choanal atresia
• Absent/hypoplastic 5th finger- and toenails Differential Diagnosis
• Fetal hydantoin syndrome
• Fetal alcohol syndrome
• DOOR syndrome
Radiographic Features Hands and Feet
• Absent/hypoplastic terminal and middle pha- langes of the 5th fingers and toes (with less severe involvement of other digits)
• Clinodactyly
• Cone-shaped epiphyses
• Foot deformities Extremities
• Radial head dislocation
• Coxa valga
• Small or absent patella Generalized Bone Defects
• Retarded bone age
Chest
• Pectus excavatum
• Short sternum
• Hypoplastic clavicles
• Supernumerary ribs Spine
• Scoliosis
• Narrow disc spaces
• Vertebral fusions
• Supernumerary vertebrae
C
Fig. 28.1. aPatient 1, age 3 years. Coarse facies, thick eyebrows, ptosis, flat nasal bridge, low-set, cupped ears. b Patient 2, age 5 months. Absent 5th fingernail, slightly hypoplastic 4th fingernail. (From archive of Dr. P. Balestrazzi, University of Parma, Italy, with permission)
a
b
Bibliography
Haspeslagh M, Fryns JP, van den Berghe H. The Coffin-Siris syndrome: report of a family and further delineation. Clin Genet 1984; 26: 374–8
Levy P, Baraitser M. Coffin-Siris syndrome. J Med Genet 1991;
28: 338–41
Lucaya J, Garcia-Conesa JA, Bosch-Banyeras JM, Pons-Perade- jordi G. The Coffin-Siris syndrome. A report of four cases and review of the literature. Pediatr Radiol 1981; 11: 35–8 Qazi QH, Heckman LS, Markouizos D, Verma RS. The Coffin-
Siris syndrome. J Med Genet 1990; 27: 333–6 Coffin-Siris Syndrome
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Fig. 28.2 a, b. Patient 3, age 6 years. Note mild hypoplasia of the lateral portions of the clavicles and short sternum
a
b
Fig. 28.3 a, b. Patient 3, age 6 years. Bilateral aplasia of the patella
a b
Coffin-Siris Syndrome 661
C
Fig. 28.4. a Patient 4, age 1 year and 6 months. Aplasia of 5th distal phalanx. b Patient 3, age 6 years.
Hypoplasia of 5th distal phalanx.
Mild to severe hypoplasia of pha- langes of fingers 2 through 4
a b
Fig. 28.5. Patient 3, age 6 years.
Marked hypoplasia of distal pha- langes of toes, most prominent in 5th toe; cone-shaped epiphyses, hypoplastic epiphyses of 4th and 5th metatarsal
