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Pediatrics71 papers

Achalasia microcephaly syndrome

Last edited: 4/14/2026

Overview

Achalasia microcephaly syndrome is not explicitly defined in the provided abstracts, but the topic seems to encompass various genetic syndromes characterized by microcephaly alongside other developmental anomalies such as brain malformations, facial dysmorphism, and systemic features like cardiomyopathy. These syndromes often have autosomal recessive inheritance patterns and can be caused by mutations in genes like NUP85, PCDH12, RBBP8, and MCPH1 2345.

Diagnosis

  • Key Diagnostic Criteria: Congenital microcephaly, often with additional features such as brain malformations (e.g., cortical band-like calcification, simplified gyral pattern), facial dysmorphism, epilepsy, cognitive impairment, and growth retardation 378.
  • Recommended Tests:
    • - Genetic Testing: Whole exome sequencing and homozygosity mapping to identify causative mutations (e.g., NUP85, PCDH12, RBBP8, MCPH1) 345. - Neuroimaging: MRI and CT scans to assess brain structure, including gyral patterns, white matter abnormalities, and calcifications 78. - Ultrasound: Prenatal diagnosis of microcephaly and associated anomalies 13.

    Management

  • Supportive Care: Management focuses on supportive care addressing developmental delays, seizures, and systemic issues like diabetes mellitus 4.
  • Developmental Interventions: Early intervention programs for cognitive and motor development 10.
  • Seizure Control: Antiepileptic drugs tailored to seizure types and severity (specific drug classes and doses not detailed in abstracts) 4.
  • Cardiac Monitoring: Regular cardiac evaluations for those with cardiomyopathy, with management guided by clinical progression 1012.

    • Special Populations

  • Pregnancy: Prenatal ultrasound can identify microcephaly and associated anomalies, potentially guiding termination decisions 13.
  • Pediatrics: Early intervention and multidisciplinary care teams are crucial for managing developmental delays and associated comorbidities 410.
  • Comorbidities: Management of coexisting conditions like diabetes mellitus and epilepsy requires specialized care 4.

    • Key Recommendations

  • Genetic Testing for Suspected Cases: Perform whole exome sequencing and homozygosity mapping to identify causative mutations in genes associated with microcephaly syndromes (Evidence: Moderate 345).
  • Comprehensive Neuroimaging: Utilize MRI and CT scans to evaluate brain structure and identify characteristic malformations (Evidence: Moderate 78).
  • Early Developmental Support: Implement early intervention programs to address cognitive and motor delays (Evidence: Expert opinion 10).
  • Regular Cardiac Monitoring: For patients with cardiomyopathy, conduct frequent cardiac evaluations and manage symptoms accordingly (Evidence: Expert opinion 1012).
  • Prenatal Surveillance: Incorporate detailed ultrasound assessments during pregnancy to detect microcephaly and associated anomalies, aiding in informed decision-making (Evidence: Moderate 13).

    • References

    1 Aguiar LR, Frias PG, Quinino LRM, Miranda-Filho DB. [Evaluation of implementation of the response to the public health emergency of microcephaly in Pernambuco State, Brazil]. Cadernos de saude publica 2021. link 2 Ravindran E, Jühlen R, Vieira-Vieira CH, Ha T, Salzberg Y, Fichtman B et al.. Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders. Human molecular genetics 2021. link 3 Aran A, Rosenfeld N, Jaron R, Renbaum P, Zuckerman S, Fridman H et al.. Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. Neurology 2016. link 4 Agha Z, Iqbal Z, Azam M, Siddique M, Willemsen MH, Kleefstra T et al.. A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1. Gene 2014. link 5 Pfau RB, Thrush DL, Hamelberg E, Bartholomew D, Botes S, Pastore M et al.. MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation. European journal of medical genetics 2013. link 6 Baxter PS, Rigby AS, Rotsaert MH, Wright I. Acquired microcephaly: causes, patterns, motor and IQ effects, and associated growth changes. Pediatrics 2009. link 7 Abdel-Salam GM, Zaki MS, Saleem SN, Gaber KR. Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. American journal of medical genetics. Part A 2008. link 8 Rajab A, Manzini MC, Mochida GH, Walsh CA, Ross ME. A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. American journal of medical genetics. Part A 2007. link 9 Abdel-Salam G, Czeizel AE. The second unrelated case with isolated microcephaly and normal intelligence (microcephalia vera). Clinical dysmorphology 2000. link 10 Kennedy SJ, Lee KJ, McCrindle BW, Teebi AS. Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype. Journal of medical genetics 1999. link 11 Kozma C, Scribanu N, Gersh E. The microcephaly-lymphoedema syndrome: report of an additional family. Clinical dysmorphology 1996. link 12 Winship IM, Viljoen DL, Leary PM, De Moor MM. Microcephaly-cardiomyopathy: a new autosomal recessive phenotype?. Journal of medical genetics 1991. link 13 The HN, Pescia G, Deonna T, Bakarić O. Early prenatal diagnosis of genetic microcephaly. Prenatal diagnosis 1985. link 14 Russell LJ, Weaver DD, Bull MJ, Weinbaum M. In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: the fetal brain disruption sequence. American journal of medical genetics 1984. link 15 Alzial C, Dufier JL, Aicardi J, de Grouchy J, Saraux H. Ocular abnormalities of true microcephaly. Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 1980. link

    Original source

    1. [1]
      [Evaluation of implementation of the response to the public health emergency of microcephaly in Pernambuco State, Brazil]. — Aguiar LR, Frias PG, Quinino LRM, Miranda-Filho DB Cadernos de saude publica (2021)
    2. [2]
      Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders. — Ravindran E, Jühlen R, Vieira-Vieira CH, Ha T, Salzberg Y, Fichtman B et al. Human molecular genetics (2021)
    3. [3]
      Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. — Aran A, Rosenfeld N, Jaron R, Renbaum P, Zuckerman S, Fridman H et al. Neurology (2016)
    4. [4]
      A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1. — Agha Z, Iqbal Z, Azam M, Siddique M, Willemsen MH, Kleefstra T et al. Gene (2014)
    5. [5]
      MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation. — Pfau RB, Thrush DL, Hamelberg E, Bartholomew D, Botes S, Pastore M et al. European journal of medical genetics (2013)
    6. [6]
      Acquired microcephaly: causes, patterns, motor and IQ effects, and associated growth changes. — Baxter PS, Rigby AS, Rotsaert MH, Wright I Pediatrics (2009)
    7. [7]
      Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. — Abdel-Salam GM, Zaki MS, Saleem SN, Gaber KR American journal of medical genetics. Part A (2008)
    8. [8]
      A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. — Rajab A, Manzini MC, Mochida GH, Walsh CA, Ross ME American journal of medical genetics. Part A (2007)
    9. [9]
      The second unrelated case with isolated microcephaly and normal intelligence (microcephalia vera). — Abdel-Salam G, Czeizel AE Clinical dysmorphology (2000)
    10. [10]
      Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype. — Kennedy SJ, Lee KJ, McCrindle BW, Teebi AS Journal of medical genetics (1999)
    11. [11]
      The microcephaly-lymphoedema syndrome: report of an additional family. — Kozma C, Scribanu N, Gersh E Clinical dysmorphology (1996)
    12. [12]
      Microcephaly-cardiomyopathy: a new autosomal recessive phenotype? — Winship IM, Viljoen DL, Leary PM, De Moor MM Journal of medical genetics (1991)
    13. [13]
      Early prenatal diagnosis of genetic microcephaly. — The HN, Pescia G, Deonna T, Bakarić O Prenatal diagnosis (1985)
    14. [14]
      In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: the fetal brain disruption sequence. — Russell LJ, Weaver DD, Bull MJ, Weinbaum M American journal of medical genetics (1984)
    15. [15]
      Ocular abnormalities of true microcephaly. — Alzial C, Dufier JL, Aicardi J, de Grouchy J, Saraux H Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde (1980)
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