dyggve  melchior  clausen ( dmc ) syndrome is a very rare , autosomal recessive disorder . it is clinically characterized by skeletal deformities ( short trunk dwarfism , scoliosis , microcephaly and limb deformities ) , facial dysmorphism and intellectual disability . radiological findings are characterized by short hand , short long bones with metaphyseal dysplasia , epiphyseal dysplasia , acetabular dysplasia , small and lacelike iliac crest , bulky jaw , platyspondyly with double humped end plates , scoliosis , widened sacroiliac joint , widened symphysis pubis out of which double - humped vertebrae and lacelike iliac crest are characteristic of dyggve  melchior  clausen ( dmc ) syndrome . linkage analysis has revealed that the gene responsible for dyggve  melchior  clausen ( dmc ) syndrome is located in the chromosome 18q21.1 ( dymeclin gene ) which encodes a membrane protein that is associated with golgi apparatus . research findings are also suggestive of involvement of other genes like-4q31.1 locus , with dmc syndrome . different subtypes of dmc syndrome have been identified , out of which smith  maccort syndrome variant presents with features of dmc syndrome without intellectual disability and are extremely rare . a 15-year - old boy was brought for psychiatric consultation being referred from a tertiary care hospital , with the history of delayed developmental milestones , inability to carry out activities of daily living on his own , inability to read , write , or calculate since birth , along with increased talkativeness , irritability , grandiosity , excessive sociability for last 2 months ( prior to consultation ) . clausen syndrome on the basis of clinical features and findings of radiological and urinary investigation . as per his parents account , his gross and fine motor language as well as social milestones had been delayed . a perusal of his perinatal documents revealed that there had been history of birth asphyxia . the patient had been unable to keep up with his peers at school and had been taken out of school after only a few months , on the insistence of his teachers , that he needed special schooling. he would generally stay calm , and would do all activities of daily living with continuous assistance of his parents . for the 2 months prior to psychiatric consultation , he had been showing a dramatic change in his behavior in the form of talking excessively , shouting for no apparent reason , grandiosity , behaving in a domineering way , talking to strangers without any inhibition and repeatedly attempting to leave the house . his sleep was also reduced to 3 to 4 h from the premorbid level of 8 to 9 h in a day . he had started demanding for new things like jacket , expensive toys , and sweets quite often . when his demands were not met , he used to become very aggressive and even beat his mother very often . there was no past history of any similar episode or evidence of hyperactivity or inattentiveness or features of oppositional defiant or conduct disturbance . there was no family history of any psychiatric disorder or intellectual disability . on physical examination , the patient 's anthropometric findings were grossly abnormal , with a head circumference of 46 cm ( microcephaly ) , a height of 105 cm ( height age : 9 years ) and arm span of 106 cm . physical examination also revealed other skeletal abnormalities , such as genu varum , flat spatulate hands , pectus carinatum , knocked knees , pes planus , and a bilateral overlapping of the toes ( second over third , and fifth over fourth ) as shown in figures 1 and 2 . the figure highlights the short neck , genu varum , pectus carinatum deformity of chest , knocked knees and overall short stature ( 105 cm ) in a 15 years old boy the figure highlights  flat spatulate hands , pes planus deformity of foot and overlapping of toes on mental status examination , the patient had authoritative attitude , over familiarity , increased psychomotor activity , increased flow of speech , authoritative attitude , elated affect , grandiose ideas , inflated self - esteem with impairment of judgment , and insight . radiological examinations revealed stout stubby bones of the hand , tapering proximal ends of metacarpals ( bullet - shaped metacarpals ) , a coarsening of trabecular pattern of the long bones , j - shaped sella tursica , flared bilateral iliac blades ( ribbon - like iliac blades ) along with abnormal configuration of bilateral femoral head epiphysis as shown in 
 figure 3 . the figure highlights  stout stubby bones with tapering proximal ends of metacarpals and coarsening of trabecular pattern , j - shaped sellaturcica and flared bilateral iliac blades with abnormal configuration of bilateral femoral head epiphysis on x - ray intelligence assessment ( after improvement of manic symptoms ) revealed moderate mental retardation with iq 38 on seguin form board test ( sfbt ) and colored progressive matrices ( cpm ) . based on the history and mental status examination , a diagnosis of dyggve melchior  clausen syndrome , with moderate mental retardation with manic episode ( as per icd-10 diagnostic criteria ) was made . the patient was initially started with antipsychotic risperidone 4 mg / day and was later increased to 6 mg / day . there was little improvement with risperidone alone , which he had taken for approximately for 6 weeks . subsequently mood stabilizer , sodium valproate had been added at a dosage of 600 mg / day in divided doses and later increased to 1000 mg / day , to which he had responded well . dyggve  melchior  clausen syndrome is a progressive spondylo - epi - metaphyseal dysplasia associated with mental retardation , characterized by a triad of skeletal deformities , facial dysmorphism , and intellectual disability . because of the close resemblance of its manifestations with morquio 's disease ( mucopolysaccharidosis type iv ) , it is also called pseudo - morquio 's disease . initially , it was thought to be a mucopolysaccharidosis , but subsequently it was disproved . recent researches suggest that dominant mutation of transient receptor potential vanilloid 4 ( trpv4 ) may be responsible for  spondylo - epiphyseal dysplasia maroteaux type ( pseudo - morquio syndrome type-2 ) . there have been only about 60 published case reports of dyggve  melchior  clausen syndrome , and our case is unique owing to the concomitant presence of a mood disorder , which so far has never been reported in conjunction with this syndrome . to the best of author 's knowledge , intellectual disability is a common neuropsychiatric developmental disability reported in patients of dyggve  melchior  clausen syndrome . in an association study on japanese population , it was found that the gene ( dymeclin gene ) responsible for dmc syndrome is also associated with schizophrenia . there is no evidence of association of mood disorder in patients of dyggve  melchior  clausen syndrome . to the best of author 's knowledge , so , the clinician should be cautious enough to understand the psychopathology of behavioral problems in the background of intellectual disability . in this case , the patient had responded poorly to the antipsychotics , but had shown good response on addition of mood stabilizer . linkage studies have revealed that bipolar affective disorder has association with multiple chromosomes out of which association with chromosome 18q is a strong and consistent association . the association of dyggve  melchior  clausen syndrome and mood disorder can be merely by chance or a co - morbid one . but as the chromosomal involvement in both the disorders overlap , there is likely a possibility of genetic linkage that might be responsible for mood disorder ( manic features ) in the background of dyggve  melchior  clausen syndrome . further study is needed in this domain to gain insight into to any possible linkage between dyggve
dyggve  melchior  clausen syndrome is a progressive spondylo - epi - metaphyseal dysplasia associated with mental retardation , characterized by a triad of skeletal deformities ( short trunk dwarfism , scoliosis , microcephaly , and limb deformities ) , facial dysmorphism , and intellectual disability . 
 it an extremely rare condition . 
 till now , there was no evidence of association of dyggve  melchior  clausen syndrome with mood disorder . 
 this case report highlights the extremely rare association of dyggve  melchior  clausen syndrome with bipolar affective disorder . 
 the patient had responded well to the combination of mood stabilizer and antipsychotics ( sodium valproate and risperidone ) . to the best of author 's knowledge , 
 this is the first case report depicting such association . 
 both dyggve  melchior  clausen syndrome and bipolar affective disorder are associated with 18q chromosome . 
 this background information raises the possibility of co - morbid association of two disorders rather than a chance association due to genetic linkage .