Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal recessive
3p14.3
Spondylocarpotarsal synostosis syndrome (SCT) is characterized by disproportionate short stature and spinal deformity. Clinical features include clubfeet, facial dysmorphism, dental enamel hypoplasia, cleft palate, joint laxity, and conductive hearing loss. Characteristic radiologic findings include block vertebrae and carpal and tarsal fusion. Delay in ossification of the epiphyses of carpal bones and epiphyseal dysplasia of the femur have been observed. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 272460.1 | United Arab Emirates | Female | Scoliosis; Sensorineural hearing impairm... Scoliosis; Sensorineural hearing impairment; Short stature; Decreased body weight; Abnormal facial shape; Carious teeth; Clinodactyly; Limited elbow extension; Delayed skeletal maturation; Hypoplastic radial head; Carpal bone hypoplasia; Short long bone  | NM_001457.4:c.4545T>A | Homozygous | Autosomal, Recessive | Alabdullatif et al. 2017 |
Wiles et al. (1992) described two brothers born to Lebanese parents with an unusual constellation of vertebral fusions without rib anomalies. The sibs had, in addition, carpal coalition.