Presentation
Patients with MOMO syndrome present a psychological involvement which should always be considered. [medwave.cl]
We report the first case of a patient with MOMO syndrome who presented with ovarian torsion from a large serous cystadenoma of the right ovary. Pediatrics, Perinatology, and Child Health Surgery APA Author BIBTEX Harvard Standard RIS Vancouver [pennstate.pure.elsevier.com]
Macrosomia, obesity, macrocephaly, ocular abnormalities Overview Type of disease: Rare conditions MOMO syndrome is a rare syndrome that was named for the characteristics of Macrocephaly, Obesity, Macrosomia, and Ocular anomalies that were present in the [globalgenes.org]
We report the first case of a patient with MOMO syndrome who presented with ovarian torsion from a large serous cystadenoma of the right ovary. Keywords [doaj.org]
Although intellectual disability has been present in all individuals with MOMO syndrome, the severity of intellectual disability may vary. Some people have been described as having autism or detached behavior. [rareguru.com]
Jaw & Teeth
- Macrostomia
Tall stature, macrostomia, and delayed eruption of teeth. Based on the few cases described, special attention must be paid to the airways because of the generalized, often morbid obesity. [accessanesthesiology.mhmedical.com]
Face, Head & Neck
- Mandibular Prognathism
PMID: 22821547 Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES syndrome): a newly recognized autosomal recessive syndrome. Kantaputra PN, Kunachaichote J, Patikulsila P. Kantaputra PN, et al. [pubmed.ncbi.nlm.nih.gov]
MOMES syndrome[25] (mental retardation, obesity, mandibular prognathism, eye and skin abnormalities), because the patient did not have skin anomalies. [medwave.cl]
- Round Face
At the physical exam, he had macrocephaly, a round face, mild exophthalmos, normal ears, nose and mouth. He also had a central obesity with adipomastia. The hands and feet were long and slender and with joints laxity. Testis were Tanner G-3. [medwave.cl]
Psychiatrical
- Suicidal Ideation
In this evaluation, the patient reported the presence of auditory hallucinations from two years ago, with aggressive content, associated with suicidal ideation. Patient lived hallucinations with high amounts of anxiety. [medwave.cl]
- Auditory Hallucination
In this evaluation, the patient reported the presence of auditory hallucinations from two years ago, with aggressive content, associated with suicidal ideation. Patient lived hallucinations with high amounts of anxiety. [medwave.cl]
Workup
X-Ray
- Delayed Bone Age
Previous publications have observed multiple associations with this syndrome, such as intellectual disability, delayed bone age, and skeletal abnormalities. [pennstate.pure.elsevier.com]
The most common features that have been reported include generalized obesity starting from early childhood; macrocephaly; ocular abnormalities (especially retinal or choroid coloboma); delayed bone age; and intellectual disability. [globalgenes.org]
Other features may include seizures, bowing of the legs, and slower maturation of the bones (delayed bone age). [rareguru.com]
Treatment
Treatment for the syndrome depends on the exact features that each person has. For more information, visit GARD. [rarediseases.org]
It was decided to start pharmacological treatment with aripiprazole with progressively augmentation until 15 mg per day. [medwave.cl]
Treatment options are based on the specific symptoms that each person has. [rareguru.com]
[…] retinal coloboma and nystagmus); Macrosomia, obesity, macrocephaly, ocular abnormalitiesMacrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus); Macrosomia, obesity, macrocephaly, ocular abnormalities About the Disease Diagnosis & Treatment [rarediseases.info.nih.gov]
Etiology
It was first described in 1993 by Moretti-Ferreira et al.[10], who reported two unrelated patients with overgrowth and an association of features different from the ones previously described in this type of syndromes, suggesting a genetic etiology due [medwave.cl]
Pathophysiology
Pathophysiology Because MOMO is such a rare disorder, very few studies have been conducted into its causes. Current research suggests that it is linked to a de novo (new) autosomal dominant mutation (PMID 8322820). [bionity.com]
Prevention
Furton attended school as normal, though her physical and mental conditions prevented her from progressing as well as the other students. Two other cases have been diagnosed, one in Italy and a second in Brazil [1]. [bionity.com]