Autosomal recessive disease.

Synopsis

 lethal dwarfism identifiable at birth (thanatophoric dwarfism)
 short ribs
 narrow thorax
 gastrointestinal atresia
 genitourinary atresia
 polycystic kidneys
 postaxial polydactyly
 severe micromelia
 transposition of great vessels
 hydrops fetalis
 deficient ossification of calvaria, vertebrae, pelvis, and bones of the hands and feet
 metaphyseal dysplasia
 small ilia
 osseous acetabular spurs

See also

 short rib-polydactyly syndromes (SRPSs)

• SRPS1 (Saldino-Noonan type) (MIM.263530)
• SRPS2 (Majewski type (MIM.263520)
• SRPS3 (Verma-Naumoff type) (MIM.263510)
• SRPS4 (Beemer-Langer type) (MIM.269860)

References

 Saldino RM, Noonan CD (1972): Sever thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies. Am J Roentgenol 114: 257-263.