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Battaglia-Neri Syndrome

Battaglia Neri Syndrome


Presentation

  • ORPHA:1948 Synonym(s): Battaglia-Neri syndrome Prevalence: Inheritance: Autosomal recessive Age of onset: Neonatal ICD-10: Q87.8 OMIM: 601352 UMLS: C2931579 MeSH: C537662 GARD: 836 MedDRA: - The documents contained in this web site are presented for information[orpha.net]
  • Speech therapy if speech and articulation issues present Physical therapy and occupational therapy for gross- and fine-motor delays Hypotonia and motor difficulties often impact handwriting.[en.wikipedia.org]
Epilepsy
  • Epilepsy - microcephaly - skeletal dysplasia, Mental retardation, microcephaly, epilepsy, and coarse face Overview A very rare syndrome characterized by mental retardation, small head, epilepsy, coarse facial features and skeletal anomalies.[checkorphan.org]
  • Title Other Names: Epilepsy - microcephaly - skeletal dysplasia; Mental retardation, microcephaly, epilepsy, and coarse face Categories: The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs[rarediseases.info.nih.gov]
Coarse Facial Features
  • Epilepsy - microcephaly - skeletal dysplasia, Mental retardation, microcephaly, epilepsy, and coarse face Overview A very rare syndrome characterized by mental retardation, small head, epilepsy, coarse facial features and skeletal anomalies.[checkorphan.org]
  • Showing of 8 80%-99% of people have these symptoms Coarse facial features Coarse facial appearance 0000280 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more ] 0002750 Hirsutism Excessive hairiness 0001007 Intellectual[rarediseases.info.nih.gov]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • In other words, it is made when a physician feels that a patient has enough of the features to warrant the label.[en.wikipedia.org]
Disability
  • Showing of 8 80%-99% of people have these symptoms Coarse facial features Coarse facial appearance 0000280 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more ] 0002750 Hirsutism Excessive hairiness 0001007 Intellectual disability[rarediseases.info.nih.gov]
  • […] diagnosis [ edit ] Turner syndrome, a different disorder often confused with NS because of several physical features that they share Fetal alcohol syndrome, another disorder sometimes confused with NS because of some common facial features and intellectual disability[en.wikipedia.org]
Failure to Thrive in Infancy
  • Gastrointestinal tract [ edit ] Failure to thrive from infancy to puberty (75%) Decreased appetite Digestive problems Frequent or forceful vomiting Swallowing difficulties Intestinal malrotation Need for a feeding tube Low gut motility Gastroparesis ([en.wikipedia.org]
Failure to Thrive
  • Gastrointestinal tract [ edit ] Failure to thrive from infancy to puberty (75%) Decreased appetite Digestive problems Frequent or forceful vomiting Swallowing difficulties Intestinal malrotation Need for a feeding tube Low gut motility Gastroparesis ([en.wikipedia.org]
Heart Disease
  • Associated noncardiac malformations in children with congenital heart disease. Midwest Soc Pediatr Res. 1963;63:468–70. Noonan, JA (1968). "Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease". Am. J. Dis.[en.wikipedia.org]
Skeletal Dysplasia
  • Epilepsy - microcephaly - skeletal dysplasia, Mental retardation, microcephaly, epilepsy, and coarse face Overview A very rare syndrome characterized by mental retardation, small head, epilepsy, coarse facial features and skeletal anomalies.[checkorphan.org]
  • Title Other Names: Epilepsy - microcephaly - skeletal dysplasia; Mental retardation, microcephaly, epilepsy, and coarse face Categories: The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs[rarediseases.info.nih.gov]
Small Head
  • Epilepsy - microcephaly - skeletal dysplasia, Mental retardation, microcephaly, epilepsy, and coarse face Overview A very rare syndrome characterized by mental retardation, small head, epilepsy, coarse facial features and skeletal anomalies.[checkorphan.org]
  • head circumference [ more ] 0000252 Scoliosis Abnormal curving of the spine 0002650 Seizures Seizure 0001250 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Showing of 8 Last updated: 7/1[rarediseases.info.nih.gov]
Lordosis
  • […] connective-tissue disorders Scoliosis Prominence of breast bone (pectus carinatum) Depression of breast bone (pectus excavatum) Joint contractures (tightness) Joint hypermobility (looseness) Winging of the scapula Hypotonia (low muscle tone) Hypermobility syndrome Lordosis[en.wikipedia.org]
Hirsutism
  • Orpha Number: 1948 Disease definition Epilepsy - microcephaly -skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities ( scoliosis[rarediseases.info.nih.gov]
  • […] rare disease Epilepsy-microcephaly-skeletal dysplasia syndrome Disease definition Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism[orpha.net]
Hirsutism
  • Orpha Number: 1948 Disease definition Epilepsy - microcephaly -skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities ( scoliosis[rarediseases.info.nih.gov]
  • […] rare disease Epilepsy-microcephaly-skeletal dysplasia syndrome Disease definition Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism[orpha.net]
Darkly Pigmented Skin
  • pigmented skin spots) Connective tissue disease Causes [ edit ] Recurrence in siblings and apparent transmission from parent to child has long suggested a genetic defect with autosomal dominant inheritance and variable expression.[en.wikipedia.org]
Coarse Face
  • Epilepsy - microcephaly - skeletal dysplasia, Mental retardation, microcephaly, epilepsy, and coarse face Overview A very rare syndrome characterized by mental retardation, small head, epilepsy, coarse facial features and skeletal anomalies.[checkorphan.org]
  • Title Other Names: Epilepsy - microcephaly - skeletal dysplasia; Mental retardation, microcephaly, epilepsy, and coarse face Categories: The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs[rarediseases.info.nih.gov]
Seizure
  • Seizure 0001250 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Showing of 8 Last updated: 7/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals[rarediseases.info.nih.gov]
  • Seizures Physical appearance [ edit ] Stature [ edit ] For short stature, growth hormone is sometimes combined with IGF-1 (or as an alternative, IGF-1 as a stand-alone) can be used to achieve an increased height/final height quicker. [9] Head [ edit ][en.wikipedia.org]
Confusion
  • confused with NS because of some common facial features and intellectual disability [21] Other RASopathies, particularly: Costello syndrome Legius syndrome Noonan Syndrome with Multiple Lentigines, as known as LEOPARD syndrome, a related disorder caused[en.wikipedia.org]

Treatment

  • Treatment - Battaglia Neri syndrome Not supplied. Resources - Battaglia Neri syndrome[checkorphan.org]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • Prognosis - Battaglia Neri syndrome Not supplied. Treatment - Battaglia Neri syndrome Not supplied. Resources - Battaglia Neri syndrome[checkorphan.org]
  • Suspected based on symptoms, confirmed with genetic testing [4] [2] Differential diagnosis Cardiofaciocutaneous syndrome, Turner syndrome, Costello syndrome, neurofibromatosis type 1 [2] [3] Treatment Based on the symptoms [3] Medication Growth hormone [3] Prognosis[en.wikipedia.org]

Prevention

  • Prevention - Battaglia Neri syndrome Not supplied. Diagnosis - Battaglia Neri syndrome Not supplied. Prognosis - Battaglia Neri syndrome Not supplied. Treatment - Battaglia Neri syndrome Not supplied. Resources - Battaglia Neri syndrome[checkorphan.org]

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