According to its clinical description: "The syndrome is characterized by an association of arthrogryposis multiplexa congenita and intellectual disability. Affected patients are born with severe contractures (arthrogryposis) and muscle weakness causing respiratory distress. Intellectual disability and delayed motor development are found in all patients. Facial weakness (ptosis) and bulbar weakness (feeding difficulty), characteristic dysmorphic facial features (possibly including long flat philtrum, low-set ears, high-arched palate, and carp-shaped mouth), and skeletal abnormalities (camptodactyly, hip dislocation, scoliosis, kyphosis, lordosis and pes equinovarus) have been reported. Other neurological signs may include spasticity and seizures. Heterozygous female carriers may also be affected, but to a lesser degree (intellectual disability, distal muscle weakness, camptodactyly, joint contractures, and pes equinovarus).".
As you can see, the first characteristic is that it presents arthrogryposis multiplexa congenita, and this would be excluded if we review the ICD-10 assigned to a higher level.
G71 Primary disorders of muscles
Excl.:
arthrogryposis multiplex congenita (Q74.3)
metabolic disorders (E70-E90)
myositis (M60.-)
Taking into account the description included in Orphanet and in OMIM 314580, a Spanish coder suggests the ICD-10 Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
He believes that it would fit better since this syndrome is a "congenital malformation syndrome affecting multiple systems".
MCecile-US14
commented
2 months ago
Dear all,
I am contacting you regarding the ICD-10 assigned to ORPHA:3454 Intellectual disability-developmental delay-contractures syndrome. ICD-10: G71.8 Other primary disorders of muscles
According to its clinical description: "The syndrome is characterized by an association of arthrogryposis multiplexa congenita and intellectual disability. Affected patients are born with severe contractures (arthrogryposis) and muscle weakness causing respiratory distress. Intellectual disability and delayed motor development are found in all patients. Facial weakness (ptosis) and bulbar weakness (feeding difficulty), characteristic dysmorphic facial features (possibly including long flat philtrum, low-set ears, high-arched palate, and carp-shaped mouth), and skeletal abnormalities (camptodactyly, hip dislocation, scoliosis, kyphosis, lordosis and pes equinovarus) have been reported. Other neurological signs may include spasticity and seizures. Heterozygous female carriers may also be affected, but to a lesser degree (intellectual disability, distal muscle weakness, camptodactyly, joint contractures, and pes equinovarus).".
As you can see, the first characteristic is that it presents arthrogryposis multiplexa congenita, and this would be excluded if we review the ICD-10 assigned to a higher level. G71 Primary disorders of muscles Excl.: arthrogryposis multiplex congenita (Q74.3) metabolic disorders (E70-E90) myositis (M60.-)
Taking into account the description included in Orphanet and in OMIM 314580, a Spanish coder suggests the ICD-10 Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
He believes that it would fit better since this syndrome is a "congenital malformation syndrome affecting multiple systems".
Thank you in advance for studying this proposal.
Kind regards,
María Elena