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Mulibrey Nanism Syndrome

MULIBREY nanism


Presentation

  • Hepatomegaly is yet another important presenting feature of Mulibrey Nanism.[epainassist.com]
  • AB - Patients with Mulibrey nanism (MUL) present with growth failure and multiple organ manifestations, and MUL is caused by mutations in TRIM37.[keio.pure.elsevier.com]
  • Clinical Utility Identification of causative mutations in known or highly suspicious cases of mulibrey nanism based on clinical presentation and the blood biomarker profile; rule-out in the presence of equivocal clinical presentation and/or biomarker[hopkinsmedicine.org]
  • When constrictive pericarditis is present at birth, affected infants may have a bluish discoloration of the skin (cyanosis), especially on the lips and fingertips.[rarediseases.org]
Multiple Congenital Anomalies
  • ZWS causes multiple congenital anomalies dominated by a typical craniofacial dysmorphism, including a high forehead, a large anterior fontanelle, hypoplastic supraorbital ridges, broad nasal bridge, micrognathia, deformed ear lobes, and redundant nuchal[emedicine.medscape.com]
High Pitched Voice
  • pitched voice * Hypodontia of second bicuspid * Growth retardation Causes - Mulibrey Nanism syndrome Not supplied.[checkorphan.org]
  • The patient had short stature and high-pitched voice with the same characteristic craniofacial features as his sibling. Psychomotor development was normal. The patient had a history of mild epistaxis over the past 2 years.[academic.oup.com]
  • References Gastrointestinal Hepatomegaly Growth Adult height ranges from 136 to 161 cm for males and from 126 to 151 cm for females Delayed puberty Hands and feet appear relatively large in relation to body Intrauterine growth deficiency Performance High-pitched[datagenno.com]
  • Such children in most of the cases have an abnormally high pitched voice.[epainassist.com]
  • Individuals with Mulibrey Nanism often have underdevelopment of various endocrine glands, that leads to hormone deficiencies Very frequently present symptoms in 80-99% of the cases: Cachexia High pitched voice Intrauterine growth retardation J-shaped[dovemed.com]
Failure to Thrive
  • Syndrome Information Clinical Description Patients diagnosed with mulibrey nanism predominantly have prenatal growth retardation, failure to thrive, hepatomegaly and characteristic craniofacial features including scaphocephaly, triangular facies, broad[hopkinsmedicine.org]
  • Tristan’s mother, Jessie, told CNN, “They knew right off he was small with obviously severe failure to thrive.” Tristan’s condition continued to worsen, though, and doctors told his parents that he might not make it.[littlethings.com]
  • "They knew right off he was small with obviously severe failure to thrive," said his mother, Jessie Willmott. Early on, complications from the disorder became debilitating.[cnn.com]
  • […] to Thrive Fairbank Disease - Multiple Epiphyseal Dysplasia Familial Dysautonomia Fanconi Anemia Fetal Alcohol Syndrome and Support Fetal Anti-Convulsant Syndrome Fetal Veapkote Syndrome / Fetal Balproate Acid Syndrome Froelich's Syndrome Gerneralized[magicfoundation.org]
Abdominal Mass
  • Both patients had non-symptomatic haematuria with a palpable abdominal mass as the only signs. Renal and genital anomalies were observed in 18% and 9% of the patients, respectively (table 3).[jmg.bmj.com]
Dysphagia
  • Early recognition and management are important because dysphagia poses a threat to the child’s respiratory function and nutrition, and may also contribute to the failure of catch up growth.[jmg.bmj.com]
Microdontia
  • Deafness, autosomal recessive 84; 613391; PTPRQ Deafness, autosomal recessive 9; 601071; OTOF Deafness, autosomal recessive 91; 613453; SERPINB6 Deafness, autosomal recessive, 24; 611022; RDX Deafness, congenital with inner ear agenesis, microtia, and microdontia[howlingpixel.com]
Retinal Pigmentation
  • Symptoms - Mulibrey Nanism syndrome * Fetal growth retardation * Low birth weight * Short stature * Large hands * Large feet * Long head * J-shaped sella turcia * Triangular face * Frontal bossing * Small tongue * Decreased retinal pigmentation * Crowded[checkorphan.org]
  • pigmentation with dispersion, hypoplasia of choroid, astigmatism, strabismus (Karlberg et al.2004) Mouth: relatively small tongue, dental crowding, hypodontia of second bicuspid (Myllarniemi et al. 1978) Cardiovascular System: Constrictive pericarditis[atlasgeneticsoncology.org]
Macula
  • The optic nerve and the macula appeared normal while the midperiphery showed focal choroidal hypoplasia with marked atrophy of the retina and of the pigment epithelium. Occasional drusen were also noted in this area.[eurekamag.com]
Skeletal Dysplasia
  • Peroxisomal Disorders Panel that also includes the following genes: AMACR HSD17B4 AGPS ABCD1 PHYH ACOX1 AGXT SUGCT PEX2 PEX7 More info about this panel Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel By Blueprint Genetics[mendelian.co]
  • Dysplasia Sotos Syndrome Spina Bifida Spondyloepiphyseal Dysplasia Tangiers Syndrome Trichorhinophalangeal Syndrome Trisomy 14, Mosaic Pattern Trisomy 18 Trisomy 21 trisomy 4 P , GHD, genisis of the corpus colosom, ONH Weaver Syndrome Weill Marchesani[magicfoundation.org]
  • dysplasia Neck webbing Noonan syndrome-like disorder with loose anagen hair Noonan's syndrome Oliver McFarlane syndrome Osteodysplastic primordial dwarfism Osteodysplastic primordial dwarfism, type 1 Prader-Willi syndrome Pseudohermaphroditism Robin[icdlist.com]
  • These include growth failure, facial dysmorphism with midface hypoplasia, retinal pigmentary changes, skeletal dysplasia, skin changes, cardiac involvement, muscular hypotonicity, and hepatomegaly.[jmg.bmj.com]
Muscle Hypotonia
  • Muscle hypotonia is frequently seen and newborns often have characteristic abnormalities of the head and face including a triangularly shaped face.[rarediseases.org]
  • Additional clinical features include hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, hypoplasia of various endocrine glands, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor.[genecards.org]
  • : Hypotonia 80% Cardiac: Constrictive pericarditis Skeletal Prenatal growth failure Slender stature Cystic dysplasia of tibia (30%) Long shallow (J-shaped) sella turcica (95%) GI: Hepatomegaly Skin: Naevi flammei (70%) Small voice Eye Choroid hypoplasia[neuromuscular.wustl.edu]
Muscular Atrophy
  • atrophy of Kennedy; 313200; AR Spinal muscular atrophy, distal, autosomal recessive, 4; 611067; PLEKHG5 Spinal muscular atrophy, distal, X-linked 3; 300489; ATP7A Spinal muscular atrophy, late-onset, Finkel type; 182980; VAPB Spinal muscular atrophy,[howlingpixel.com]
Large Feet
  • Symptoms - Mulibrey Nanism syndrome * Fetal growth retardation * Low birth weight * Short stature * Large hands * Large feet * Long head * J-shaped sella turcia * Triangular face * Frontal bossing * Small tongue * Decreased retinal pigmentation * Crowded[checkorphan.org]

Workup

Pericardial Effusion
  • Cardiac evaluation showed constrictive pericarditis, moderate pulmonary hypertension, and mild pericardial effusion. The patient underwent pericardiectomy, but her thick and adhesive pericardium forced the surgeon to do partial pericardiotomy.[jthc.tums.ac.ir]

Treatment

  • There is no specific treatment for Mulibrey Nanism. Treatment is only symptomatic and supportive. For conditions like constricted pericarditis surgery may be required to correct the abnormality.[epainassist.com]
  • Combined treatment with spironolactone and furosemide improved significantly the patients quality of life and allowed conservative treatment of ascites with no need of repeated punctures.[muni.cz]
  • Hello Health Group does not provide medical advice, diagnosis or treatment.[hellodoktor.com]
  • The growth hormone treatment was safe and induced a good short-term effect, but the impact on the adult height remained modest. genetic disease fetal growth restriction growth failure growth hormone treatment insulin resistance Accepted December 12, 2006[pediatrics.aappublications.org]

Prognosis

  • Our case series suggests that early diagnosis and total pericardiectomy before adherence of the pericardium might provide clinical benefit and better prognosis for MUL.[keio.pure.elsevier.com]
  • It has been suggested that constrictive pericarditis with restrictive cardiomyopathy , when present, plays a large part in the prognosis .[rarediseases.info.nih.gov]
  • Diagnosis - Mulibrey Nanism syndrome * Liver Health: Home Testing o Home Hepatitis Tests o Home Liver Tests Prognosis - Mulibrey Nanism syndrome Not supplied. Treatment - Mulibrey Nanism syndrome Not supplied.[checkorphan.org]
  • Early diagnosis is important because 50% of the patients develop congestive heart failure owing to constrictive pericarditis, and this condition plays a critical role in the final prognosis.[jthc.tums.ac.ir]

Etiology

  • Permitidos Inglés : BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology[decs.bvs.br]
  • Elsevier Health Sciences , 18 aug. 2013 - 979 pagini Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders[books.google.ro]
  • Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases.[books.google.com]

Epidemiology

  • DWARFISM 1998-2005 Calificadores Permitidos Inglés : BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology[decs.bvs.br]
  • Summary Epidemiology The exact prevalence is unknown. Worldwide, around 150 cases have been reported. Most cases described are from Finland where a birth prevalence of 1/37,000 has been reported.[orpha.net]
  • Cerevisiae, homolog of (FLAD1; FADS) ; Chromosome 1q21.3; Recessive Epidemiology: 9 patients Genetics Mutations: Biallelic, Frameshift, Missense or 1 amino acid deletion Mutation locations Molybdopterin binding (MPTb) domain, upstream of FADS domain:[neuromuscular.wustl.edu]
  • Finnish sample collections and cohorts Epidemiological and Clinical Finnish Sample Collections - Finnish sample Collections, overview: Northern Finnish Birth Cohort NFBC (1966 & 1986) - Overview of the NFBC at the University of Oulu pages: - Overview[snpedia.com]
Sex distribution
Age distribution

Pathophysiology

  • Myers RB, Spodick DH (1999) Constrictive pericarditis: clinical and pathophysiologic characteristics. Am Heart J 138:219–232 PubMed CrossRef Google Scholar 17.[link.springer.com]
  • The pathophysiology of the development of IRS and type 2 diabetes in these subjects or in the general population is mostly unknown ( 4 – 6 ).[diabetes.diabetesjournals.org]

Prevention

  • Prevention - Mulibrey Nanism syndrome Not supplied. Diagnosis - Mulibrey Nanism syndrome * Liver Health: Home Testing o Home Hepatitis Tests o Home Liver Tests Prognosis - Mulibrey Nanism syndrome Not supplied.[checkorphan.org]
  • […] diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PS parasitology PA pathology PP physiopathology PC prevention[decs.bvs.br]
  • How can Mulibrey Nanism be Prevented? Currently, Mulibrey Nanism may not be preventable, since it is a genetic disorder.[dovemed.com]
  • Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] Noonan syndrome Noonan syndrome is a condition that affects many areas of the body.[icdlist.com]

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