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A congenital syndrome with growth and mental retardation, feeding difficulties, digital anomalies, and coarse facies.

Fifth Digit Syndrome; Dwarfism-Onychodysplasia Syndrome; Short Stature-Onychodysplasia Syndrome.

First described by Grange S. Coffin, an American pediatrician, and Evelyn Siris, an American radiologist, in 1970. To avoid confusion with the Coffin Siris Wegienka Syndrome, it was decided to name the latter syndrome Coffin-Lowry Syndrome (after Robert Brian Lowry, a British medical geneticist, who described a fourth family with the findings of Coffin-Siris-Wegienka Syndrome in 1971).

Since its first description, approximately 65 cases have been reported. The male-to-female ratio is approximately 1:4.

The mode of inheritance is uncertain, but is most likely autosomal dominant. However, a case has been made suggesting autosomal recessive inheritance. It remains possible that inheritance may not be mendelian in nature. The genetic defect is thought to be in the 7q32-q34 region.

Based on the clinical findings of developmental delay, mental retardation, hypoplasia of the fifth digit nail and terminal phalanges of hands and feet, sparse scalp hair, bushy eyebrows, wide mouth, hirsutism, and prominent or hypertrophied lips.

The constant finding is absence or hypoplasia of the distal and middle phalanges, especially those of the fifth digits of the hands and/or feet with aplasia/hypoplasia of the nail of the fifth digit (other digits may also be affected). The other main features that have been reported are low birth weight, failure to thrive (poor sucking and feeding difficulties), and recurrent respiratory tract infections. Central nervous system anomalies may include microcephaly, generalized hypotonia, developmental delay, and mild-to-moderate mental retardation, Dandy-Walker Malformation, hypoplasia/aplasia of the corpus callosum, and abnormal and ectopic cerebellar nuclei. Sparse scalp hair, long eyelashes, and bushy eyebrows contrast with hirsutism. In addition, a wide mouth with prominent or thick lips, choanal atresia, flat nasal bridge, anteverted and wide nasal tip, and high arched palate (occasionally with cleft) are often present. Occasionally, ptosis, short philtrum, and macroglossia occur. Short stature with vertebral anomalies (kyphosis, scoliosis, spina bifida occulta, sacral dimple), joint laxity, small patellae, and delayed bone age are fairly frequent. A variety of associated cardiac defects have been described, including patent foramen ovale, tetralogy of Fallot, atrial and ventricular septal defects, patent ductus arteriosus, pulmonary stenosis, and persistent left superior vena cava. Diaphragmatic hernia has been reported in a few patients. Urogenital anomalies, such as hydronephrosis, congenital micro-ureters with stenosis at the vesicoureteral junction, ectopic, small, or fused kidneys, cryptorchidism, hypospadias, and uterus aplasia have been described. Ocular anomalies are common and may include myopia, astigmatism, strabismus, nystagmus, and tear duct anomalies. Mild-to-severe hearing loss is frequent. Besides cardiac surgery, these patients often present for umbilical and/or inguinal hernia repair. Recurrent infections (upper respiratory tract, pneumonia, otitis media) are an ongoing issue in these patients. In a subset of patients, recurrent hypoglycemic attacks, gastric outlet obstruction, intestinal malrotation, and intussusception have been described.

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