Table VII.

XLID Syndromes with Generalized Skeletal Dysplasias

Syndrome (gene)	Type of Skeletal Dysplasia	Other Skeletal Features	Associated Features
Chassaing-Lacombe Chondrodysplasia (HDAC6)	Spondylometaphyseal	Platyspondyly, metaphyseal flaring, 11 ribs, poor mineralization, brachydactyly	Hydrocephaly, microphthalmia, male lethality, females affected
Christian	Spondylobrachydactyly	Prominent metopic ridge, hemivertebrae, scoliosis, sacral hypoplasia, brachydactyly with short middle phalanges	Abducens palsy, downslanting palpebral fissures, glucose intolerance
Otopalatodigital I (FLNA)	Spondylobrachydactyly	Short trunk with pectus excavatum, brachydactyly, short and broad thumbs and halluces, abnormal carpals and tarsals	Pugilistic facies, downslanting palpebral fissures, cleft palate, large anterior fontanel with delayed closure
Otopalatodigital II (FLNA)	Spondylobrachydactyly (more severe, but similar skeletal findings to those seen in OPD1)	Short trunk with pectus excavatum, brachydactyly, short and broad thumbs and halluces, abnormal carpals and tarsals, bowed long bones, hypoplastic/absent fibulae	Prominent forehead, downslanting palpebral fissures, large anterior fontanel with delayed closure, hypertelorism, small mouth, cleft palate, micrognathia
Roifman	Spondyloepiphyseal	Wavy and irregular vertebral endplates, generalized epiphyseal changes, short tapered digits	Microcephaly, downslanting palpebral fissures, long philtrum, thin upper lip, pigmentary retinopathy, immune deficiency with frequent infections
XLID-SEMD	Spondyloepimetaphyseal	Progressive dysplasia of spine, metaphyses, and epiphyses, chest deformation	Coarse facies, progressive mental deterioration