U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Delpire-McNeill syndrome(DELMNES)

MedGen UID:
1725056
Concept ID:
C5436771
Disease or Syndrome
Synonyms: DELMNES; DELPIRE-MCNEILL SYNDROME
 
Gene (location): SLC12A2 (5q23.3)
 
Monarch Initiative: MONDO:0033667
OMIM®: 619083

Definition

Delpire-McNeill syndrome (DELMNES) is a neurodevelopmental disorder with highly variable manifestations. Patients present in infancy with global developmental delay, including motor, speech, and impaired intellectual development. The most severely affected patients have hypotonia, inability to hold their head or walk, bilateral sensorineural deafness, and absent language, whereas others have delayed walking and mild to moderate intellectual disability, often with speech delay and autistic features. More variable features may include spasticity or minor involvement of other organ systems, such as hip dislocation or ventricular septal defect (summary by McNeill et al., 2020). [from OMIM]

Clinical features

From HPO
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Bilateral sensorineural hearing impairment
MedGen UID:
96788
Concept ID:
C0452138
Disease or Syndrome
A bilateral form of sensorineural hearing impairment.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Corpus callosum, agenesis of
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Delayed ability to walk
MedGen UID:
66034
Concept ID:
C0241726
Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Cortical dysplasia
MedGen UID:
98129
Concept ID:
C0431380
Congenital Abnormality
The presence of developmental dysplasia of the cerebral cortex.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Tracheoesophageal fistula
MedGen UID:
21228
Concept ID:
C0040588
Anatomical Abnormality
An abnormal connection (fistula) between the esophagus and the trachea.

Professional guidelines

PubMed

Styne DM, Arslanian SA, Connor EL, Farooqi IS, Murad MH, Silverstein JH, Yanovski JA
J Clin Endocrinol Metab 2017 Mar 1;102(3):709-757. doi: 10.1210/jc.2016-2573. PMID: 28359099Free PMC Article
Spasovski G, Vanholder R, Allolio B, Annane D, Ball S, Bichet D, Decaux G, Fenske W, Hoorn EJ, Ichai C, Joannidis M, Soupart A, Zietse R, Haller M, van der Veer S, Van Biesen W, Nagler E; Hyponatraemia Guideline Development Group
Eur J Endocrinol 2014 Mar;170(3):G1-47. Epub 2014 Feb 25 doi: 10.1530/EJE-13-1020. PMID: 24569125
Verbalis JG, Goldsmith SR, Greenberg A, Korzelius C, Schrier RW, Sterns RH, Thompson CJ
Am J Med 2013 Oct;126(10 Suppl 1):S1-42. doi: 10.1016/j.amjmed.2013.07.006. PMID: 24074529

Recent clinical studies

Etiology

Varagur K, Sanka SA, Strahle JM
Neurosurg Clin N Am 2022 Jan;33(1):67-79. doi: 10.1016/j.nec.2021.09.006. PMID: 34801143Free PMC Article
Keith KA, Reed LK, Nguyen A, Qaiser R
Neurosurg Clin N Am 2022 Jan;33(1):135-148. doi: 10.1016/j.nec.2021.09.010. PMID: 34801137
Valdebran M, Wine Lee L
Curr Opin Pediatr 2020 Aug;32(4):498-505. doi: 10.1097/MOP.0000000000000925. PMID: 32692048
Poh TY, Mac Aogáin M, Chan AK, Yii AC, Yong VF, Tiew PY, Koh MS, Chotirmall SH
Expert Rev Respir Med 2017 Apr;11(4):285-298. Epub 2017 Mar 24 doi: 10.1080/17476348.2017.1305895. PMID: 28282995
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

Diagnosis

Koster MJ, Samec MJ, Warrington KJ
J Clin Rheumatol 2023 Sep 1;29(6):298-306. Epub 2022 Oct 17 doi: 10.1097/RHU.0000000000001905. PMID: 36251488
Keith KA, Reed LK, Nguyen A, Qaiser R
Neurosurg Clin N Am 2022 Jan;33(1):135-148. doi: 10.1016/j.nec.2021.09.010. PMID: 34801137
De Wel B, Claeys KG
Curr Opin Neurol 2021 Oct 1;34(5):714-720. doi: 10.1097/WCO.0000000000000963. PMID: 34914668
Geenen KR, Patel S, Thiele EA
Dev Med Child Neurol 2021 Mar;63(3):259-262. Epub 2020 Oct 31 doi: 10.1111/dmcn.14723. PMID: 33135153
Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J
Acta Ophthalmol 2020 Dec;98(8):e1034-e1048. Epub 2020 Jun 1 doi: 10.1111/aos.14479. PMID: 32483926Free PMC Article

Therapy

Dou Z, Xia Y, Zhang J, Li Y, Zhang Y, Zhao L, Huang Z, Sun H, Wu L, Han D, Liu Y
Front Endocrinol (Lausanne) 2021;12:728032. Epub 2021 Dec 23 doi: 10.3389/fendo.2021.728032. PMID: 35002950Free PMC Article
Saha S, Roy P, Corbitt C, Kakar SS
Cells 2021 Jun 28;10(7) doi: 10.3390/cells10071613. PMID: 34203240Free PMC Article
Geenen KR, Patel S, Thiele EA
Dev Med Child Neurol 2021 Mar;63(3):259-262. Epub 2020 Oct 31 doi: 10.1111/dmcn.14723. PMID: 33135153
Kagan R, Kellogg-Spadt S, Parish SJ
Drugs Aging 2019 Oct;36(10):897-908. doi: 10.1007/s40266-019-00700-w. PMID: 31452067Free PMC Article
Sosa-Reina MD, Nunez-Nagy S, Gallego-Izquierdo T, Pecos-Martín D, Monserrat J, Álvarez-Mon M
Biomed Res Int 2017;2017:2356346. Epub 2017 Sep 20 doi: 10.1155/2017/2356346. PMID: 29291206Free PMC Article

Prognosis

Fardeau C, Alafaleq M, Dhaenens CM, Dollfus H, Koné-Paut I, Grunewald O, Morel JB, Titah C, Saadoun D, Lazeran PO, Meunier I
Clin Genet 2023 Apr;103(4):453-458. Epub 2022 Dec 30 doi: 10.1111/cge.14286. PMID: 36543582
Košutova P, Mikolka P
Physiol Res 2021 Dec 30;70(Suppl4):S567-S583. doi: 10.33549/physiolres.934767. PMID: 35199544Free PMC Article
Tan Tanny SP, Beck C, King SK, Hawley A, Brooks JA, McLeod E, Hutson JM, Teague WJ
Pediatrics 2021 May;147(5) doi: 10.1542/peds.2020-029884. PMID: 33911029
Cristescu Teodor R, Mihaltan FD
Rom J Ophthalmol 2019 Jan-Mar;63(1):2-9. PMID: 31198891Free PMC Article
Park CY, Lee JK, Chuck RS
BMC Ophthalmol 2018 Oct 25;18(1):276. doi: 10.1186/s12886-018-0939-3. PMID: 30359246Free PMC Article

Clinical prediction guides

Yapijakis C, Pachis N, Sotiriadou T, Vaila C, Michopoulou V, Vassiliou S
In Vivo 2023 Jan-Feb;37(1):36-46. doi: 10.21873/invivo.13052. PMID: 36593018Free PMC Article
Balaji S, Johnson P, Dvorak AV, Kolind SH
Curr Opin Neurol 2022 Aug 1;35(4):467-474. Epub 2022 Jul 5 doi: 10.1097/WCO.0000000000001078. PMID: 35788545
Boßelmann CM
Seizure 2021 Nov;92:230-233. Epub 2021 Sep 27 doi: 10.1016/j.seizure.2021.09.019. PMID: 34607271
Nazerian P, Mueller C, Soeiro AM, Leidel BA, Salvadeo SAT, Giachino F, Vanni S, Grimm K, Oliveira MT Jr, Pivetta E, Lupia E, Grifoni S, Morello F; ADvISED Investigators
Circulation 2018 Jan 16;137(3):250-258. Epub 2017 Oct 13 doi: 10.1161/CIRCULATIONAHA.117.029457. PMID: 29030346
Wijdicks EF, Bamlet WR, Maramattom BV, Manno EM, McClelland RL
Ann Neurol 2005 Oct;58(4):585-93. doi: 10.1002/ana.20611. PMID: 16178024

Recent systematic reviews

Freitas DA, Souza-Santos R, Carvalho LMA, Barros WB, Neves LM, Brasil P, Wakimoto MD
PLoS One 2020;15(12):e0242367. Epub 2020 Dec 15 doi: 10.1371/journal.pone.0242367. PMID: 33320867Free PMC Article
Sosa-Reina MD, Nunez-Nagy S, Gallego-Izquierdo T, Pecos-Martín D, Monserrat J, Álvarez-Mon M
Biomed Res Int 2017;2017:2356346. Epub 2017 Sep 20 doi: 10.1155/2017/2356346. PMID: 29291206Free PMC Article
Sorensen CJ, DeSanto K, Borgelt L, Phillips KT, Monte AA
J Med Toxicol 2017 Mar;13(1):71-87. Epub 2016 Dec 20 doi: 10.1007/s13181-016-0595-z. PMID: 28000146Free PMC Article
Fhon JR, Rodrigues RA, Neira WF, Huayta VM, Robazzi ML
Rev Esc Enferm USP 2016 Nov-Dec;50(6):1005-1013. doi: 10.1590/S0080-623420160000700018. PMID: 28198967
Canavan TN, Mathes EF, Frieden I, Shinkai K
J Am Acad Dermatol 2015 Feb;72(2):239-45. doi: 10.1016/j.jaad.2014.06.026. PMID: 25592340

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.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. 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...