Table VI.

XLID Syndromes with Skeletal Malformations

Syndrome (gene)	Long bones	Digits	Associated features
Giuffre-Tsukahara	Radioulnar synostosis	Fifth finger clinodactyly	Microcephaly in males and females
Goltz (PORCN)	Asymmetry, longitudinal striations of metaphyses	Reduction defects with missing digital rays	Dermal hypoplasia, ectodermal dysplasia, cleft lip/palate, renal anomalies
Lenz Microphthalmia (BCOR)	–	Duplicated and/or hypoplastic thumbs, syndactyly, camptodactyly	Microphthalmia and anterior chamber defects, cleft lip/palate, urogenital anomalies
Opitz FG (MED12)	–	Broad flat thumbs, rarely duplicated	Macrocephaly, dysplastic corpus callosum, cardiac defects, imperforate anus, constipation, hypotonia
Oral-Facial-Digital (OFD1)	–	Asymmetrically shortened fingers, syndactyly	Cleft lip, lingual hamartomas, accessory frenulae, CNS anomalies
Otopalatodigital II (FLNA)	Fibular deficiency, bowing of long bones	Short digits, broad thumbs and great toes, variable absence of thumbs, polydactyly and syndactyly	Prominent forehead, hypertelorism, flat midface, downslanting palpebral fissures, small mouth, micrognathia, cleft palate, spondylobrachydactyly, poor calvarial ossification, abnormally formed carpals and tarsals, narrow thorax
VACTERL-Hydrocephaly (FANCB)	Radial deficiency	Absent thumbs	Early lethality, hydrocephalus, vertebral, tracheoesphageal, cardiac, renal, and anal anomalies