[MIM 271 520]

see also : Jarcho-Levin syndrome

Extremely rare. A few cases have been described in the Mennonite community. Form of spondylocostal dysostosis associated with other malformations, notably anal and urogenital.

It may present with :

-         short stature with a short (“crab-shaped”) thorax, a short neck and an abdomen that appears protuberant

-         scoliosis due to vertebral anomalies

-         craniofacial dysmorphism: prominent occiput, anteverted nostrils, wide nose bridge and large forehead

-         anal atresia, duodenal stenosis,

-         varus equinus clubfoot, syndactyly, pelvic hypoplasia

-         urogenital anomalies: hydronephrosis, horseshoe kidney, urethral stricture, bicornuate uterus, neurogenic bladder, etc.

Anesthetic implications: 

Depending on associated anomalies; scoliosis; check respiratory function.

References : 

-        Munoz-Montoya JE, Asmar-Murgas MA, Guerrero Cardozo JL, Rodriguez-Buitrago A, Alvarado-Gomez F, Meneses-Quintero D.
Malformations of the craniocervical junction: Casamassima-Morton-Nance syndrome and type I Chiari malformation.
Interdisciplinary Neurosurgery: Advanced Techniques and Case Management 2021; 26 : 101283

-        Lourembam R, Gupta MK, Sherwani P, Verma PK.
Spondylocostal Dysostosis with anal atresia and urogenital anomalies in a young infant: first case entity of Casamassima-Morton-Nance syndrome from Asia.
J Pediatr Genet 2024;13:227-31.

Updated: January 2025