Presentation
We present details of a patient whose clinical presentation closely resembles the profile of Malpuech syndrome, but whose radiological features are more in keeping with published observations in Juberg-Hayward patients. [ncbi.nlm.nih.gov]
Ptosis, unilateral or bilateral, can be present. One patient was reported to have unilateral aniridia and a corneal leucoma. Tear duct atresia was reported in another individual. [disorders.eyes.arizona.edu]
Respiratoric
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Aspiration
Treatment - Malpuech facial clefting syndrome o Neonatal support is largely nutritional –Patients with velopharyngeal insufficiency are at risk for aspiration –Breastfeeding may or may not be possible depending on the location and size of the defect – [checkorphan.org]
Musculoskeletal
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Lordosis
[…] coccyx/caudal appendage Mental retardation Postnatal growth deficiency Telecanthus Bifid tip of the nose Dysplastic/low set ears Down-turned corners of the mouth Cleft lip/palate Accessory nipple Cryptorchid testes Short/clinodactilous fifth finger Lordosis [documents.tips]
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Hip Dislocation
dislocation Fibular aplasia ectrodactyly Deafness, dystonia, and cerebral hypomyelination Potocki-Shaffer syndrome Brachydactyly elbow wrist dysplasia Keratoderma palmoplantar spastic paralysis Agammaglobulinemia, microcephaly, and severe dermatitis [checkrare.com]
Ears
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Hearing Impairment
At age three years, mental retardation, hyperactivity and obsessive compulsive disorder were diagnosed; hearing impairment was diagnosed at age six, managed with the use of hearing aids. [en.wikipedia.org]
Psychiatrical
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Psychiatric Manifestation
Long-term follow-up revealed psychiatric manifestations starting at young age. [ncbi.nlm.nih.gov]
Psychiatric manifestations that have been reported with the syndrome include psychotic behavior, obsessive–compulsive disorder, loss of inhibition, hyperactivity, aggression, fear of physical contact, and compulsive actions like echolalia (repeating the [en.wikipedia.org]
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Fear
At age 14, he exhibited a fear of physical contact; at age 15, he experienced a severe psychotic episode, characterized by agitation and a loss of sociosexual inhibition. [en.wikipedia.org]
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Compulsive Disorder
At age three years, mental retardation, hyperactivity and obsessive compulsive disorder were diagnosed; hearing impairment was diagnosed at age six, managed with the use of hearing aids. [en.wikipedia.org]
Neurologic
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Echolalia
He maintained a low level of mental deficiency by age 17, with moments of compulsive echolalia. The incidence of Malpuech syndrome has not been determined. [en.wikipedia.org]
He maintained a low level of mental deficiency by age 17, with moments of compulsive echolalia. Epidemiology and history The incidence of Malpuech syndrome has not been determined. [wiki30.com]
Treatment
Treatment Treatment Options: No effective general treatment has been reported. [disorders.eyes.arizona.edu]
Barot BS, Parejiya PB, Patel HK, Gohel MC, Shelat PK (2012) Microemulsion-based gel of terbinafine for the treatment of onychomycosis: optimization of formulation using D – optimal design. AAPS PharmSciTech13: 184-92. [brightkite.com]
Treatment - Malpuech facial clefting syndrome o Neonatal support is largely nutritional –Patients with velopharyngeal insufficiency are at risk for aspiration –Breastfeeding may or may not be possible depending on the location and size of the defect – [checkorphan.org]
No Treatment Girls with primary ovarian failure received oestrogen/progesterone treatment starting age 13. [cochranelibrary.com]
Prognosis
[…] difficult to see on fetal ultrasound –Screening Echo for cardiac anomalies and –Chest X-ray for presence of thymus o Screenings –Neonatal and periodic hearing screening –Calcium level and immunoglobulins for DiGeorge o Dental and speech evaluations Prognosis [checkorphan.org]
Furthermore, the complication of both has a worse prognosis compared with patients with only one of these diseases. However, the details of the underlying mechanisms of this worsened prognosis have not been clear. [searchworks.stanford.edu]
Etiology
Together, these findings demonstrate a role for complement pathway factors in fundamental developmental processes and in the etiology of 3MC syndrome . [pesquisa.bvs.br]
Since the genetic factor is an important etiologic factor in both conditions. This issue begs further research to determine the genetic status of such patients to comment on the relationship between these two entities. [jisponline.com]
Codes with this note are Etiology codes and must be followed by a Manifestation code or codes. [icd.codes]
[…] recommended for families to help to understand that autosomal recessive disorders are strongly associated with consanguinity and that sporadic undiagnosed case of intellectual disability, congenital anomalies and dysmorphism may have an autosomal recessive etiology [ashg.org]
Together, these findings demonstrate a role for complement pathway factors in fundamental developmental processes and in the etiology of 3MC syndrome. [doi.org]
Epidemiology
[…] at risk, testing methods, the prevalence and the epidemiology of down syndrome and to discuss the abortion debate that is closely related to this condition. [123helpme.com]
Relevant External Links for MASP1 Genetic Association Database (GAD) MASP1 Human Genome Epidemiology (HuGE) Navigator MASP1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: MASP1 No data available for Genatlas for MASP1 Gene Molecular characterization [genecards.org]
Epidemiology and history The incidence of Malpuech syndrome has not been determined. A 1999 report by Crisponi et al. suggested that only about 12 individuals worldwide were affected by the disorder at that time. [wiki30.com]
He maintained a low level of mental deficiency by age 17, with moments of compulsive echolalia. [15] Epidemiology and history [ edit ] The incidence of Malpuech syndrome has not been determined. [16] A 1999 report by Crisponi et al. suggested that only [en.wikipedia.org]
Pathophysiology
This is predominantly a clinical (rather than pathophysiologic) distinction based on the presence of limb anomalies in the former category, and their absence in the latter. Prevalence The prevalence of MFDM has not been established. [ncbi.nlm.nih.gov]
This heterogeneity makes it difficult to study associations, since there is also heterogeneity in the underlying pathophysiology of the various types of cardiovascular disease. [ahajournals.org]
Prevention
[…] palate associated with lip pits * Cause associated with maternal exposure to corticosteroids, phenytoin, valproic acid, thalidomide, alcohol, cigarettes, dioxin, or retinoic acid; and maternal diabetes mellitus, hormone imbalance, and vitamin deficiency Prevention [checkorphan.org]
Mother Yi said during pregnancy she didn't take any medications except some abortion prevention agents prescribed by the doctors at Xiangxiang Women and Children's Hospital. [whatsonxiamen.com]
According to Centers for Disease Control and Prevention, (n.d. para 3).”Breathing secondhand smoke interferes with the normal functioning of the heart, blood, and vascular systems in ways that increase the risk of having a heart attack”. [brightkite.com]
Mar 2019, In : Journal of Cardiopulmonary Rehabilitation and Prevention. 39, 2, p. 85-90 6 p. [monash.edu]
Periodontal treatment for aggressive periodontitis was aimed at eliminating or reducing the pathogenic micro-organisms and prevention of further bone loss. [jisponline.com]