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Pitt-Hopkins-like syndrome

MedGen UID:
1648432
Concept ID:
C4751168
Disease or Syndrome
Synonym: PTHSL
 
Monarch Initiative: MONDO:0016377

Definition

Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated. [from MONDO]

Professional guidelines

PubMed

D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V
Hum Genet 2023 Jul;142(7):909-925. Epub 2023 May 14 doi: 10.1007/s00439-023-02552-2. PMID: 37183190Free PMC Article

Recent clinical studies

Etiology

Castronovo P, Baccarin M, Ricciardello A, Picinelli C, Tomaiuolo P, Cucinotta F, Frittoli M, Lintas C, Sacco R, Persico AM
Clin Genet 2020 Jan;97(1):125-137. Epub 2019 May 7 doi: 10.1111/cge.13537. PMID: 30873608

Diagnosis

Aksu Uzunhan T, Ayaz A
Clin Neurol Neurosurg 2022 Mar;214:107141. Epub 2022 Jan 24 doi: 10.1016/j.clineuro.2022.107141. PMID: 35101781

Prognosis

Castronovo P, Baccarin M, Ricciardello A, Picinelli C, Tomaiuolo P, Cucinotta F, Frittoli M, Lintas C, Sacco R, Persico AM
Clin Genet 2020 Jan;97(1):125-137. Epub 2019 May 7 doi: 10.1111/cge.13537. PMID: 30873608
Brunner D, Kabitzke P, He D, Cox K, Thiede L, Hanania T, Sabath E, Alexandrov V, Saxe M, Peles E, Mills A, Spooren W, Ghosh A, Feliciano P, Benedetti M, Luo Clayton A, Biemans B
PLoS One 2015;10(8):e0134572. Epub 2015 Aug 14 doi: 10.1371/journal.pone.0134572. PMID: 26273832Free PMC Article

Clinical prediction guides

Panza N, Bianchini C, Cetica V, Balestrini S, Barba C, Ferrari AR, Mei D, Parmeggiani L, Parrini E, Guerrini R
Epilepsia Open 2024 Feb;9(1):417-423. Epub 2023 Dec 15 doi: 10.1002/epi4.12843. PMID: 37805811Free PMC Article
Castronovo P, Baccarin M, Ricciardello A, Picinelli C, Tomaiuolo P, Cucinotta F, Frittoli M, Lintas C, Sacco R, Persico AM
Clin Genet 2020 Jan;97(1):125-137. Epub 2019 May 7 doi: 10.1111/cge.13537. PMID: 30873608
Brunner D, Kabitzke P, He D, Cox K, Thiede L, Hanania T, Sabath E, Alexandrov V, Saxe M, Peles E, Mills A, Spooren W, Ghosh A, Feliciano P, Benedetti M, Luo Clayton A, Biemans B
PLoS One 2015;10(8):e0134572. Epub 2015 Aug 14 doi: 10.1371/journal.pone.0134572. PMID: 26273832Free PMC Article

Recent systematic reviews

Castronovo P, Baccarin M, Ricciardello A, Picinelli C, Tomaiuolo P, Cucinotta F, Frittoli M, Lintas C, Sacco R, Persico AM
Clin Genet 2020 Jan;97(1):125-137. Epub 2019 May 7 doi: 10.1111/cge.13537. PMID: 30873608

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