Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation

Clinical Features

Tsukahara et al. (1989) reported a 14-year-old girl, born of second-cousin parents, who had type A1 brachydactyly (see 112500) associated with minor skeletal abnormalities and dwarfism, thoracic scoliosis, mixed partial hearing loss, microcephaly, and mental retardation. Facial features included ptosis, epicanthic folds, upslanting palpebral fissures, and a bulbous nose. She was myopic with a visual acuity of 20/200 bilaterally, and had a persistent iridopupillary membrane and double papilla in the left eye. She also had short, broad great toes with a wide space between the great and second toes, soft tissue syndactyly of the second and third toes, and hypoplastic toenails.

Utine et al. (2010) described a 12-year-old female, born of first-cousin parents, in whom they noted similarities to the patient previously described by Tsukahara et al. (1989), including microcephaly, short stature, mental retardation, and facial and skeletal features. The patient studied by Utine et al. (2010) had ptosis, bilateral epicanthic folds, upward-slanting palpebral fissures, long philtrum, and bulbous nose with anteverted nares. Her hands were short and broad with brachydactyly and clinodactyly. The feet were small and broad with sandal gaps bilaterally; toes were very short, and the left fourth and fifth toes were syndactylous in a Y-shaped configuration. All her nails were short, hypoplastic, and deep set. Radiography revealed type A1 brachydactyly and scoliosis. Like the previously reported patient, this patient also had recurrent middle ear infections and mild conductive hearing loss.

Nomenclature

The syndrome described here was designated 'Tsukahara syndrome' by Utine et al. (2010). This syndrome is distinct from the 'Tsukahara syndrome' involving radioulnar synostosis, microcephaly, short stature, scoliosis, and mental retardation (603438).