Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1; CFSMR1
Craniofacial Dysmorphism, Skeletal Anomalies, and Impaired Intellectual Development Syndrome 1; CFSMR1
OMIM number: 213980
Comments closing date: 10/03/2023
Craniofacial dysmorphism, skeletal anomalies,
and impaired intellectual development syndrome-1
(CFSMR1) is a very rare genetic disorder caused
by inheriting changes in the TMCO1 gene on
chromosome 1 from both parents. Children born
with the condition have multiple abnormalities in
development of the brain, face and torso. As such
they have very distinctive facial features, suffer
from severe intellectual disability, and have
problems related to abnormalities of their ribs and
skeleton. Around a quarter of children born with
the condition never manage to speak or walk.
Alongside the intellectual disability many children
display behavioral issues such as anxiety, autism
and self-harming. Nevertheless affected
individuals are noted as having friendly
personalities and being good-natured despite their
many challenges.
Review date: 10 February 2025