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Hypotonia, infantile, with psychomotor retardation and characteristic facies

MedGen UID:
1642314
Concept ID:
C4706556
Disease or Syndrome
Synonym: Hypotonia-speech impairment-severe cognitive delay syndrome
SNOMED CT: Hypotonia, speech impairment, severe cognitive delay syndrome (763722004); IHPRF (infantile hypotonia, psychomotor retardation, characteristic facies) syndrome (763722004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0014176
OMIM® Phenotypic series: PS615419
Orphanet: ORPHA371364

Definition

A rare genetic neurodegenerative disorder with characteristics of severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies

Professional guidelines

Recent clinical studies

Etiology

Ope O, Bhoj EJ, Nelson B, Li D, Hakonarson H, Sobering AK
Am J Med Genet A 2020 Aug;182(8):1877-1880. Epub 2020 Jul 2 doi: 10.1002/ajmg.a.61744. PMID: 32618095

Diagnosis

Tan HY, Wang B, Song YZ
BMC Pediatr 2022 Oct 22;22(1):612. doi: 10.1186/s12887-022-03672-w. PMID: 36273129Free PMC Article
Mishra S, Girisha KM, Shukla A
Clin Dysmorphol 2021 Jan;30(1):1-5. doi: 10.1097/MCD.0000000000000360. PMID: 33229923Free PMC Article
Ope O, Bhoj EJ, Nelson B, Li D, Hakonarson H, Sobering AK
Am J Med Genet A 2020 Aug;182(8):1877-1880. Epub 2020 Jul 2 doi: 10.1002/ajmg.a.61744. PMID: 32618095
Bouasse M, Impheng H, Servant Z, Lory P, Monteil A
Sci Rep 2019 Aug 13;9(1):11791. doi: 10.1038/s41598-019-48071-x. PMID: 31409833Free PMC Article
Obeid T, Hamzeh AR, Saif F, Nair P, Mohamed M, Al-Ali MT, Bastaki F
Metab Brain Dis 2018 Jun;33(3):869-873. Epub 2018 Feb 11 doi: 10.1007/s11011-018-0200-z. PMID: 29430593

Therapy

Winczewska-Wiktor A, Hirschfeld AS, Badura-Stronka M, Wojsyk-Banaszak I, Sobkowiak P, Bartkowska-Śniatkowska A, Babak V, Steinborn B
Int J Environ Res Public Health 2022 Jan 11;19(2) doi: 10.3390/ijerph19020775. PMID: 35055596Free PMC Article

Prognosis

Kelesoglu FM, Kaya M, Sayili ET
Am J Med Genet A 2023 Jul;191(7):1959-1962. Epub 2023 Apr 17 doi: 10.1002/ajmg.a.63213. PMID: 37067163
Tan HY, Wang B, Song YZ
BMC Pediatr 2022 Oct 22;22(1):612. doi: 10.1186/s12887-022-03672-w. PMID: 36273129Free PMC Article
Winczewska-Wiktor A, Hirschfeld AS, Badura-Stronka M, Wojsyk-Banaszak I, Sobkowiak P, Bartkowska-Śniatkowska A, Babak V, Steinborn B
Int J Environ Res Public Health 2022 Jan 11;19(2) doi: 10.3390/ijerph19020775. PMID: 35055596Free PMC Article
Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D
Hum Genet 2018 Sep;137(9):753-768. Epub 2018 Aug 23 doi: 10.1007/s00439-018-1929-5. PMID: 30167850Free PMC Article

Clinical prediction guides

Kelesoglu FM, Kaya M, Sayili ET
Am J Med Genet A 2023 Jul;191(7):1959-1962. Epub 2023 Apr 17 doi: 10.1002/ajmg.a.63213. PMID: 37067163
Tan HY, Wang B, Song YZ
BMC Pediatr 2022 Oct 22;22(1):612. doi: 10.1186/s12887-022-03672-w. PMID: 36273129Free PMC Article
Winczewska-Wiktor A, Hirschfeld AS, Badura-Stronka M, Wojsyk-Banaszak I, Sobkowiak P, Bartkowska-Śniatkowska A, Babak V, Steinborn B
Int J Environ Res Public Health 2022 Jan 11;19(2) doi: 10.3390/ijerph19020775. PMID: 35055596Free PMC Article
Mishra S, Girisha KM, Shukla A
Clin Dysmorphol 2021 Jan;30(1):1-5. doi: 10.1097/MCD.0000000000000360. PMID: 33229923Free PMC Article
Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D
Hum Genet 2018 Sep;137(9):753-768. Epub 2018 Aug 23 doi: 10.1007/s00439-018-1929-5. PMID: 30167850Free PMC Article

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