U.S. flag

An official website of the United States government


Send to:

Choose Destination

Pontocerebellar hypoplasia type 5(PCH5)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Olivopontocerebellar hypoplasia fetal-onset; PCH5
SNOMED CT: Congenital pontocerebellar hypoplasia type 5 (718607001); PCH5 - pontocerebellar hypoplasia type 5 (718607001); Pontocerebellar hypoplasia type 5 (718607001); Fetal onset olivopontocerebellar hypoplasia (718607001)
Gene (location): TSEN54 (17q25.1)
Monarch Initiative: MONDO:0012438
OMIM®: 610204
Orphanet: ORPHA166068

Disease characteristics

Excerpted from the GeneReview: TSEN54 Pontocerebellar Hypoplasia
TSEN54 pontocerebellar hypoplasia (TSEN54-PCH) comprises three PCH phenotypes (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three PCH phenotypes (which differ mainly in life expectancy) were considered to be distinct entities before their molecular basis was known. PCH2. Children usually succumb before age ten years (those with PCH4 and 5 usually succumb as neonates). Children with PCH2 have generalized clonus, uncoordinated sucking and swallowing, impaired cognitive development, lack of voluntary motor development, cortical blindness, and an increased risk for rhabdomyolysis during severe infections. Epilepsy is present in approximately 50%. PCH4. Neonates often have seizures, multiple joint contractures ("arthrogryposis"), generalized clonus, and central respiratory impairment. PCH5 resembles PCH4 and has been described in one family. [from GeneReviews]
Tessa van Dijk  |  Frank Baas   view full author information

Additional description

Pontocerebellar hypoplasia (PCH) refers to a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem (summary by Patel et al., 2006). For a phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia, see PCH1 (607596).  http://www.omim.org/entry/610204

Clinical features

From HPO
MedGen UID:
Concept ID:
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Olivopontocerebellar hypoplasia
MedGen UID:
Concept ID:
Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.
MedGen UID:
Concept ID:
Head circumference below 2 standard deviations below the mean for age and gender.

Professional guidelines


Kahn-Kirby AH, Amagata A, Maeder CI, Mei JJ, Sideris S, Kosaka Y, Hinman A, Malone SA, Bruegger JJ, Wang L, Kim V, Shrader WD, Hoff KG, Latham JC, Ashley EA, Wheeler MT, Bertini E, Carrozzo R, Martinelli D, Dionisi-Vici C, Chapman KA, Enns GM, Gahl W, Wolfe L, Saneto RP, Johnson SC, Trimmer JK, Klein MB, Holst CR
PLoS One 2019;14(3):e0214250. Epub 2019 Mar 28 doi: 10.1371/journal.pone.0214250. PMID: 30921410Free PMC Article
Ivanov I, Atkinson D, Litvinenko I, Angelova L, Andonova S, Mumdjiev H, Pacheva I, Panova M, Yordanova R, Belovejdov V, Petrova A, Bosheva M, Shmilev T, Savov A, Jordanova A
Eur J Paediatr Neurol 2018 Jul;22(4):674-681. Epub 2018 Apr 3 doi: 10.1016/j.ejpn.2018.03.011. PMID: 29656927

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...